Thyroid dysgenesis caused by PAX8 mutation: The hypermutability with CpG dinucleotides at codon 31

被引：45

作者：

Komatsu, M

Takahashi, T

Takahashi, I

Nakamura, M

Takahashi, I

Takada, G

机构：

[1] Akita Univ, Sch Med, Dept Pediat, Akita 0108543, Japan

[2] Ogachi Chuo Gen Hosp, Div Surg, Akita, Japan

[3] Ogachi Chuo Gen Hosp, Div Pediat, Akita, Japan

来源：

JOURNAL OF PEDIATRICS | 2001年 / 139卷 / 04期

关键词：

D O I：

10.1067/mpd.2001.117071

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We identified a novel mutation (CGC to TGC) at codon 31 of the Paired box S gene, an important transcription factor in the development of the thyroid gland. Mutations at this codon have been independently reported in 2 cases (CGC to CAC). These transitions are considered typical CpG-consequence mutations and account for hypermutability at this position.

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页码：597 / 599

页数：3

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