一名患有杂合性RS1错义突变的女性的X连锁视网膜劈裂症 - Suppr

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超能文献

X-linked retinoschisis in a female with a heterozygous RS1 missense mutation.

作者信息

Saldana Manuel, Thompson Jenny, Monk Elizabeth, Trump Dorothy, Long Vernon, Sheridan Eamonn

机构信息

Department of Ophthalmology, Leeds General Infirmary, Leeds, United Kingdom.

出版信息

Am J Med Genet A. 2007 Mar 15;143A(6):608-9. doi: 10.1002/ajmg.a.31568.

DOI:10.1002/ajmg.a.31568

PMID:17304551

Abstract

摘要

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