A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels-Reference-Cited by-同舟云学术

A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels

Published:2006-02-14 Issue:4 Volume:51 Page:379-382
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Kitanaka Sachiko,Takeda Ayaka,Sato Utako,Miki Yuko,Hishinuma Akira,Ieiri Tamio,Igarashi Takashi

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg200656.pdf

Reference21 articles.

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2. Despres N, Grant AM (1998) Antibody interference in thyroid assays: a potential for clinical misinformation. Clin Chem 44:440–454

3. Gutnisky VJ, Moya CM, Rivolta CM, Domene S, Varela V, Toniolo JV, Medeiros-Neto G, Targovnik HM (2004) Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis. J Clin Endocrinol Metab 89:646–657

4. Hishinuma A, Takamatsu J, Ohyama Y, Yokozawa T, Kanno Y, Kuma K, Yoshida S, Matsuura N, Ieiri T (1999) Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter. J Clin Endocrinol Metab 84:1438–1444

5. Hishinuma A, Furudate S, Oh-Ishi M, Nagakubo N, Namatame T, Ieiri T (2000) A novel missense mutation (G2320R) in thyroglobulin causes hypothyroidism in rdw rats. Endocrinology 141:4050–4055

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