一个携带新型FBN1基因无义突变的家族中马凡综合征的表型变异性。 - Suppr

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Phenotypic variability in Marfan syndrome in a family with a novel nonsense FBN1 gene mutation.

作者信息

Díaz de Bustamante Aránzazu, Ruiz-Casares Eva, Darnaude M Teresa, Perucho Teresa, Martínez-Quesada Gabriel

出版信息

Rev Esp Cardiol (Engl Ed). 2012 Apr;65(4):380-1. doi: 10.1016/j.recesp.2011.05.027. Epub 2011 Aug 12.

DOI:10.1016/j.recesp.2011.05.027

PMID:21840105

Abstract

摘要

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