Concepedia

Haplotype Analysis Reveals Founder Effects of Thyroglobulin Gene Mutations C1058R and C1977S in Japan

Akira Hishinuma, Shuji Fukata, Soroku Nishiyama, Yoshikazu Nishi, Masamichi Ohishi, Yoshiharu Murata, Yoshihide Ohyama, Nobuo Matsuura, Kikuo Kasai, Shohei Harada,

The Journal of Clinical Endocrinology & Metabolism · 2006 · 77 citations · 15 references

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Abstract

The frequently found mutations, C1058R and C1977S, were caused by founder effects. This result suggests that Tg mutations may provide a genetic basis for the cause of familial euthyroid goiter.

References

15

Primary structure of human thyroglobulin deduced from the sequence of its 8448-base complementary DNA

Yves Malthièry, Serge Lissitzky · European Journal of Biochemistry · 1987 · 323 citations

Two Decades of Screening for Congenital Hypothyroidism in the Netherlands: TPO Gene Mutations in Total Iodide Organification Defects (an Update)

Hennie Bikker, Thomas Vulsma, Janine S. E. de Randamie et al. · The Journal of Clinical Endocrinology & Metabolism · 2000 · 182 citations

, , +13

A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism.

Tamio Ieiri, Pascale Cochaux, Héctor M. Targovnik et al. · Journal of Clinical Investigation · 1991 · 169 citations · Full text

, , +17

Up to date with human thyroglobulin

S.A. van de Graaf, Carrie Ris‐Stalpers, Erwin Pauws et al. · Journal of Endocrinology · 2001 · 148 citations · Full text

, , +15

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 Goiter1

Akira Hishinuma, Junta Takamatsu, Yoshihide Ohyama et al. · The Journal of Clinical Endocrinology & Metabolism · 1999 · 91 citations · Full text