| 1 | GKD, GK
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| Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays.
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| Stanczak CM, Chen Z, Zhang YH, Nelson SF, McCabe ER.
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| Hum Mutat 28(3):235-42. 2007
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| 2 | GK, GKD
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| Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.
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| Zhang YH, Huang BL, Jialal I, Northrup H, McCabe ER, Dipple KM.
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| Pediatr Res 59(4 Pt 1):590-2. 2006
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| 3 | GK, GKD
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| Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation.
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| Sargent CA, Kidd A, Moore S, Dean J, Besley GT, Affara NA.
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| J Med Genet 37(6):434-41. 2000
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| 4 | GK, GKD
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| Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.
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| Sjarif DR, et al.
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| J Med Genet 35 : 650-656. 1998
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| 5 | GKD, GK
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| Mutations and phenotype in isolated glycerol kinase deficiency.
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| Walker AP, et al.
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| Am J Hum Genet 58 : 1205-1211. 1996
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| 6 | GK, GK7P, GK2, GK3P, GK4P, GKD
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| The glycerol kinase gene family : structure of the Xp gene, and related intronless retroposons.
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| Sargent CA, et al.
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| Hum Mol Genet 3 : 1317-1324. 1994
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| 7 | GK, AHC, GKD, DELXP21
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| Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21.
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| Worley KC, et al.
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| Genomics 16 : 407-416. 1993
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| 8 | GK, GKD
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| Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene.
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| Guo W, et al.
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| Nat Genet 4 : 367-372. 1993
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| 9 | GK, GKD
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| Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue.
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| Sargent CA, et al.
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| Hum Mol Genet 2 : 97-106. 1993
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| 10 | DELXP21, GK, GKD
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| Mental retardation locus in Xp21 chromosome microdeletion.
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| Fries MH, Lebo RV, Schonberg SA, Golabi M, Seltzer WK, Gitelman SE, Golbus MS.
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| Am J Med Genet 46(4):363-8. 1993
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| 11 | AHC, GK, GKD
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| A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes.
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| Walker AP, et al.
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| Hum Mol Genet 1 : 579-585. 1992
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| 12 | DELXP21, GKD
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| Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints.
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| McCabe ER, Towbin JA, van den Engh G, Trask BJ.
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| Am J Hum Genet 51(6):1277-85. 1992
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| 13 | AHC, DELXP21, GK, GKD
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| Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.
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| Francke U, Harper JF, Darras BT, Cowan JM, McCabe ER, Kohlsch�tter A, Seltzer WK, Saito F, Goto J, Harpey JP, et al.
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| Am J Hum Genet 40(3):212-27. 1987
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| 14 | DELXP21, GKD
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| Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies.
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| Clarke A, Roberts SH, Thomas NS, Whitfield A, Williams J, Harper PS.
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| J Med Genet 23(6):501-8. 1986
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| 15 | GKD
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| Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria.
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| McCabe ER, Fennessey PV, Guggenheim MA, Miles BS, Bullen WW, Sceats DJ, Goodman SI.
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| Biochem Biophys Res Commun 78(4):1327-33. No abstract available. 1977
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