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Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.

作者信息

Shen J J, Brown C A, Lupski J R, Potocki L

出版信息

J Med Genet. 2003 Nov;40(11):854-7. doi: 10.1136/jmg.40.11.854.

DOI:10.1136/jmg.40.11.854
PMID:14627682
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1735303/
Abstract
摘要

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