中国格子状角膜营养不良患者的临床及分子遗传学分析与TGFBI（BIGH3）基因新的Thr538Pro突变 - Suppr

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超能文献

A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene.

作者信息

Yu Ping, Gu Yangshun, Yang Yuehong, Yan Xiaoyi, Chen Lili, Ge Zhen, Qi Ming, Si Jianmin, Guo Lei

机构信息

Department of Medical Genetics, School of Medicine, Zhejiang University, Hangzhou 310006, China.

出版信息

J Genet. 2006 Apr;85(1):73-6. doi: 10.1007/BF02728974.

DOI:10.1007/BF02728974

PMID:16809844

Abstract

摘要

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Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA.

Am J Med Genet. 2002 Nov 15;113(1):20-2. doi: 10.1002/ajmg.10709.

An analysis of BIGH3 mutations in patients with corneal dystrophies in the Kyushu district of Japan.日本九州地区角膜营养不良患者的BIGH3基因突变分析。

Jpn J Ophthalmol. 2002 Jul-Aug;46(4):469-71. doi: 10.1016/s0021-5155(02)00528-2.

BIGH3 mutation spectrum in corneal dystrophies.角膜营养不良中的BIGH3突变谱。

Invest Ophthalmol Vis Sci. 2002 Apr;43(4):949-54.

BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy.韩国角膜营养不良患者的BIGH3基因突变与快速检测

Cornea. 2001 Nov;20(8):844-9. doi: 10.1097/00003226-200111000-00013.

Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan.日本常染色体显性遗传性角膜营养不良与BIGH3基因突变的关联。

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