Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan.

@article{Hishinuma2006HaplotypeAR,
  title={Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan.},
  author={Akira Hishinuma and Shuji Fukata and Soroku Nishiyama and Yoshikazu Nishi and M Oh-ishi and Yoshiharu Matsuura Murata and Yoshihide Ohyama and Nobuo Matsuura and Kikuo Kasai and Shohei Harada and Sachiko Kitanaka and Junta Takamatsu and Kohji Kiwaki and Hidemi Ohye and Takashi Uruno and Chisato Tomoda and Toshihiro Tajima and Kanji Kuma and Akira Miyauchi and Tamio Ieiri},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2006},
  volume={91 8},
  pages={3100-4}
}
CONTEXT Thyroglobulin (Tg) mutations were previously believed to be rare, resulting in congenital goitrous hypothyroidism. However, an increasing number of patients with Tg mutations, who are euthyroid to mildly hypothyroid, have been identified in Japan. OBJECTIVES The purpose of this study was to investigate whether the three frequently found Tg mutations, namely C1058R, C1245R, and C1977S, were caused by a founder effect. RESULTS We found 26 different mutations within the Tg gene in 52… CONTINUE READING

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