1 | MEN2A, MTC1, RET
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| Multiple endocrine neoplasia type 2A in two families with the familial medullary thyroid carcinoma associated G533C mutation of the RET proto-oncogene.
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| Peppa M, Boutati E, Kamakari S, Pikounis V, Peros G, Panayiotides IG, Economopoulos T, Raptis SA, Hadjidakis D.
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| Eur J Endocrinol 159(6):767-71. Epub 2008 Sep 19. Review.
2008
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2 | MTC1, RET
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| Exon 5 of the RET proto-oncogene: a newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321Arg.
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| Dvorakova S, Vaclavikova E, Duskova J, Vlcek P, Ryska A, Bendlova B.
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| J Endocrinol Invest 28(10):905-9. 2005
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3 | RET, MTC1
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| A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred with familial medullary thyroid carcinoma.
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| Da Silva AM, Maciel RM, Da Silva MR, Toledo SR, De Carvalho MB, Cerutti JM.
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| J Clin Endocrinol Metab 88(11):5438-43. 2003
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4 | MTC1, RET
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| A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma.
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| Pigny P, et al.
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| J Clin Endocrinol Metab 84(5):1700-4. 1999
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5 | RET, MEN2B, MTC1
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| Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma.
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| Iwashita T, et al.
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| Oncogene 18(26):3919-22 1999
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6 | MTC1, RET
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| Novel point mutations and allele loss at the RET locus in sporadic medullary thyroid carcinomas.
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| Uchino S, et al.
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| Jpn J Cancer Res 89 : 411-418. 1998
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7 | MTC1, RET
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| Novel point mutation in exon 10 of the RET proto-oncogene in a family with medullary thyroid carcinoma.
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| Oriola J, et al.
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| Am J Med Genet 78 : 271-273. 1998
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8 | MTC1, RET
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| Mutation of the RET proto-oncogene is correlated with RET immunostaining in subpopulations of cells in sporadic medullary thyroid carcinoma.
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| Eng C, et al.
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| J Clin Endocrinol Metab 83 : 4310-4313. 1998
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9 | MEN2A, MEN2B, MTC1, RET
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| Prevalence and parental origin of De novo RET mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma.
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| Schuffenecker I, et al.
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| Am J Hum Genet 60 : 233-237. 1997
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10 | MTC1, RET
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| Mutation of RET codon 768 is associated with the FMTC phenotype.
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| Boccia LM, et al.
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| Clin Genet 51 : 81-85. 1997
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11 | MTC1, RET
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| Identification of a novel somatic mutation in the RET proto-oncogene in a patient with sporadic medullary thyroid carcinoma.
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| Matias-Guiu X, et al.
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| Hum Mutat 9 : 476. 1997
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12 | MTC1, RET
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| Molecular analysis of the RET proto-oncogene in patients with sporadic medullary thyroid carcinoma: a novel point mutation in the extracellular cysteine-rich domain.
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| Bugalho MJ, Frade JP, Santos JR, Limbert E, Sobrinho L.
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| Eur J Endocrinol 136(4):423-6. 1997
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13 | GDNF, MTC1, VHL
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| Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.
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| Woodward ER, Eng C, McMahon R, Voutilainen R, Affara NA, Ponder BA, Maher ER.
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| Hum Mol Genet 6(7):1051-6. 1997
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14 | CCDC6, HSCR1, MTC1, PTC1, RET
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| Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting.
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| Peretz H, Luboshitsky R, Baron E, Biton A, Gershoni R, Usher S, Grynberg E, Yakobson E, Graff E, Lapidot M.
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| Hum Mutat 10(2):155-9. 1997
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15 | HSCR1, MEN2A, MTC1, RET
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| Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype.
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| Ito S, Iwashita T, Asai N, Murakami H, Iwata Y, Sobue G, Takahashi M.
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| Cancer Res 57(14):2870-2. 1997
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16 | MEN2A, MEN2B, MTC1, RET
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| Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC : two novel mutations and one De novo mutation for MEN2A.
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| Landsvater RM, et al.
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| Hum Genet 97 : 11-14. 1996
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17 | MEN2A, MTC1, RET
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| Detection of RET mutations in multiple endocrine neoplasia type 2a and familial medullary thyroid carcinoma by denaturing gradient gel electrophoresis.
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| Peacock ML, et al.
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| Hum Mutat 7 : 100-104. 1996
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18 | RET, MTC1
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| Germline and somatic mutations in an oncogene : RET mutations in inherited medullary thyroid carcinoma.
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| Marsh DJ, et al.
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| Cancer Res 56 : 1241-1243. 1996
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19 | MTC1, RET
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| A novel deletion in the RET proto-oncogene found in sporadic medullary thyroid carcinoma.
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| Alemi M, et al.
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| Anticancer Res 16 : 2619-2622. 1996
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20 | MTC1, RET
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| Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma.
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| Wohllk N, et al.
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| J Clin Endocrinol Metab 81 : 3740-3745. 1996
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21 | RET, MTC1
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| A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC.
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| Eng C, et al.
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| Oncogene 10 : 509-513. 1995
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22 | MTC1, RET, VHL
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| Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas.
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| Eng C, et al.
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| J Med Genet 32 : 934-937. 1995
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23 | RET, MEN2A, MEN2B, MTC1
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| Genotype-phenotype correlation in multiple endocrine neoplasia type 2 : report of the international RET mutation consortium.
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| Mulligan LM, et al.
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| J Int Med 238 : 343-346. 1995
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24 | RET, MTC1
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| RET mutations in exons 13 and 14 of FMTC patients.
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| Bolino A, et al.
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| Oncogene 10 : 2415-2419. 1995
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25 | MEN2A, MEN2B, MTC1, RET
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| Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC.
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| Mulligan LM, et al.
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| Nat Genet 6 : 70-74. 1994
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26 | RET, MTC1, MEN2B
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| A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma.
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| Hofstra RMW, et al.
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| Nature 367 : 375-376. 1994
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27 | MEN2A, MTC1
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| Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests.
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| Xue F, et al.
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| Hum Mol Genet 3 : 635-638. 1994
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28 | MEN2A, MEN2B, MTC1
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| Somatic and MEN 2A De novo mutations identified in the RET proto-oncogene by screening of sporadic MTC's.
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| Zedenius J, et al.
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| Hum Mol Genet 3 : 1259-1262. 1994
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29 | RET, MEN2A, MTC1
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| A rapid screening method for the detection of mutations in the RET proto-oncogene in multiple endocrine neoplasia type 2A and familial medullary thyroid arcinoma families.
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| Marsh DJ, et al.
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| Genomics 23 : 477-479. 1994
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30 | MTC1, RET
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| RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer. (abstr)
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| Blaugrund JE, et al.
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| Hum Mol Genet 3 : 1895-1897. 1994
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31 | RET, MTC1, MEN2A
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| RET proto-oncogene mutations in French MEN 2A and FMTC families.
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| Schuffenecker I, et al.
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| Hum Mol Genet 3 : 1939-1943. 1994
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32 | MEN2A, HSCR1, MTC1, RET
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| Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.
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| Mulligan LM, et al.
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| Hum Mol Genet 3 : 2163-2167. 1994
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33 | CCDC6, MEN2A, MTC1, RET
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| Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.
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| Donis-Keller H, et al.
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| Hum Mol Genet 2 : 851-856. 1993
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34 | MTC1
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| Genetic heterogeneity in families with familial medullary thyroid carcinoma.
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| Carson NL, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 1948. 1991
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35 | MEN2A, MEN2B, MTC1
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| A cluster of CpG islands in 10q11.2: implications for cloning the MEN2A,MEN2B and MTC1 gene(s).
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| Brooks-Wilson AR, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 1947. 1991
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36 | MEN2A, MTC1
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| Familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2B map to the same region of chromosome 10 as multiple endocrine neoplasia type 2A.
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| Lairmore TC, et al.
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| Genomics 9 : 181-192. 1991
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37 | MEN2B, MTC1
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| Linkage of MEN-IIb to chromosome 10 and linkage studies in familial medullary thyroid carcinoma.
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| Lairmore TC, et al.
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| Am J Hum Genet 47 : A187. 1990
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38 | MEN2A, MTC1
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| The mutation for medullary thyroid carcinoma with parathyroid tumors (MTC with PTs) is closely linked to the centromeric region of chromosome 10.
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| Carson NL, et al.
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| Am J Hum Genet 47 : 946-951. 1990
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39 | MTC1, MEN2A
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| Genetic mapping of familial medullary carcinoma of the thyroid (MCT) multiple endocrine neoplasia 2A (MEN-2A) with polymorphic loci on chromosome 10.
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| Noll WW, et al.
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| Am J Hum Genet 43 : A29. 1988
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