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Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers.

作者信息

Morrone A, Cavicchi C, Bardelli T, Antuzzi D, Parini R, Di Rocco M, Feriozzi S, Gabrielli O, Barone R, Pistone G, Spisni C, Ricci R, Zammarchi E

机构信息

Department of Paediatrics, Florence, Italy.

出版信息

J Med Genet. 2003 Aug;40(8):e103. doi: 10.1136/jmg.40.8.e103.

DOI:10.1136/jmg.40.8.e103
PMID:12920095
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1735554/
Abstract
摘要

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[Fabry's disease. Apropos of a family].[法布里病。关于一个家族]
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