在一个患有甲状腺激素抵抗的大家族中，发现HTRβ基因第8外显子存在一种新的突变（A268G）。 - Suppr

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超能文献

Identification of a novel mutation (A268G) in exon 8 of the HTR beta gene in a large family with thyroid hormone resistance.

作者信息

Jézéquel P, Guilhem I, Hespel J P, Le Treut A, Gall J Y, Allannic H, Blayau M

机构信息

Laboratory of Molecular Genetics, CHU Poruchaillou, Rennes, France.

出版信息

Hum Mutat. 1996;8(4):396. doi: 10.1002/(SICI)1098-1004(1996)8:4<396::AID-HUMU24>3.0.CO;2-X.

DOI:10.1002/(SICI)1098-1004(1996)8:4<396::AID-HUMU24>3.0.CO;2-X

PMID:8956060

Abstract

摘要

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