在一个巴斯克家族中，视紫红质基因内含子4的3'-受体剪接位点出现新突变，与常染色体显性视网膜色素变性相关。 - Suppr

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超能文献

New mutation in the 3'-acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family.

作者信息

Reig C, Alvarez A I, Tejada I, Molina M, Aróstegui E, Martín R, Antich J, Carballo M

机构信息

Secció de Genètica, Hospital de Sant Joan de Déu, Barcelona, Spain.

出版信息

Hum Mutat. 1996;8(1):93-4. doi: 10.1002/(SICI)1098-1004(1996)8:1<93::AID-HUMU17>3.0.CO;2-M.

DOI:10.1002/(SICI)1098-1004(1996)8:1<93::AID-HUMU17>3.0.CO;2-M

PMID:8807346

Abstract

摘要

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New mutation in the 3'-acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family.

作者信息

Reig C, Alvarez A I, Tejada I, Molina M, Aróstegui E, Martín R, Antich J, Carballo M

机构信息

Secció de Genètica, Hospital de Sant Joan de Déu, Barcelona, Spain.

出版信息

Hum Mutat. 1996;8(1):93-4. doi: 10.1002/(SICI)1098-1004(1996)8:1<93::AID-HUMU17>3.0.CO;2-M.

DOI:10.1002/(SICI)1098-1004(1996)8:1<93::AID-HUMU17>3.0.CO;2-M

PMID:8807346

Abstract

摘要