Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype.
作者信息
Black C, Withers A P, Gray J R, Bridges A B, Craig A, Baty D U, Boxer M
机构信息
Department of Pathology, Ninewells Hospital and Medical School, Dundee, UK.
出版信息
Hum Mutat. 1998;Suppl 1:S198-200. doi: 10.1002/humu.1380110164.
PMID:9452085
Abstract
摘要
Zotero 插件