| 1 | SERPINA7, TBG
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| TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature.
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| Mannavola D, Vannucchi G, Fugazzola L, Cirello V, Campi I, Radetti G, Persani L, Refetoff S, Beck-Peccoz P.
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| J Mol Med 84(10):864-71. Epub 2006 Sep 1. Review.
2006
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| 2 | TBG
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| Complete thyroxine-binding globulin (TBG) deficiency in two families without mutations in coding or promoter regions of the TBG genes: in vitro demonstration of exon skipping.
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| Reutrakul S, Dumitrescu A, Macchia PE, Moll GW Jr, Vierhapper H, Refetoff S.
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| J Clin Endocrinol Metab 87(3):1045-51. 2002
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| 3 | SERPINA7, TBG
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| Precise localization of the human thyroxine-binding globulin gene to chromosome Xq22.2 by fluorescence in situ hybridization.
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| Mori Y, et al.
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| Hum Genet 96 : 481-482. 1995
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| 4 | SERPINA7, TBG
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| Gene screening in Japanese families with complete deficiency of thyroxine-binding globulin demonstrates that a nucleotide deletion at codon 352 may be a race specific mutation.
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| Takeda K, et al.
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| Clin Endocrinol 40 : 221-226. 1994
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| 5 | TBG
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| Gene screening of 23 Japanese families with complete thyroxine-binding globulin deficiency : identification of a nucleotide deletion at codon 352 as a common cause.
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| Yamamori I, et al.
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| Endocr J 40 : 563-569. 1993
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| 6 | SERPINA7, TBG
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| The structure of the human thyroxine binding globulin (TBG) gene.
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| Akbari MT, et al.
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| Biochim Biophys Acta 1216 : 446-454. 1993
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| 7 | SERPINA7, TBG
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| Molecular basis of inherited thyroxine-binding globulin defects.
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| Janssen OE, et al.
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| Trends Endocrinol Metab 3 : 49-53. 1992
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| 8 | SERPINA7, TBG
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| Thyroxine-binding globulin variant (TBG-Kumamoto). Identification of a point mutation and genotype analysis of its family.
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| Shirotani T, et al.
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| Endocrinol Jpn 39 : 577-584. 1992
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| 9 | SERPINA7, TBG
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| Sequence of the variant thyroxine-binding globulin (TBG) in a Montreal family with partial TBG deficiency.
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| Janssen OE, et al.
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| Hum Genet 87 : 119-122. 1991
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| 10 | SERPINA7, TBG
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| Nucleotide deletion resulting in frameshift as a possible cause of complete thyroxine-binding globulin deficiency in six Japanese families.
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| Yamamori I, et al.
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| J Clin Endocrinol Metab 73 : 262-267. 1991
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| 11 | SERPINA7, TBG
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| Sequencing of the variant thyroxine-binding globulin (TBG)-Quebec reveals two nucleotide substitutions.
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| Bertenshaw R, et al.
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| Am J Hum Genet 48 : 741-744. 1991
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| 12 | SERPINA7, TBG
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| Localization of the human thyroxine-binding globulin gene to the long arm of the X chromosome (Xq21-22).
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| Trent JM, et al.
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| Am J Hum Genet 41 : 428-435. 1987
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| 13 | SERPINA7, TBG
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| Complete amino acid sequence of human thyroxine-binding globulin deduced from cloned DNA : close homology to the serine antiproteases.
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| Flink IL, et al.
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| Proc Natl Acad Sci U S A 83 : 7708-7712. 1986
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| 14 | SERPINA7, TBG
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| Detection of genetic variation with radioactive ligands. IV. X-linked polymorphic genetic variation of thyroxin-binding globulin (TGB).
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| Daiger SP, et al.
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| Am J Hum Genet 33 : 640-648. 1981
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| 15 | SERPINA7, TBG
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| Hereditary abnormalities of thyroxine-binding globulin concentration : a study of 19 kindreds with inherited increase or decrease of thyroxine-binding globuline.
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| Burr WA, et al.
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| Q J Med 49 : 295-313. 1980
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