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A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene
Author(s) -
Chen Ming,
Kuo HsiangHsu,
Huang YiChen,
Ke YuYuan,
Chang ShunPing,
Chen ChihPing,
Lee DongJay,
Lee MengLuen,
Lee MeiHui,
Chen TzeHo,
Chen ChiaHsiang,
Lin HuiMei,
Liu ChinSan,
Ma GwoChin
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32768
Subject(s) - nonsense mutation , medicine , nonsense , mutation , genetics , gene , dermatology , biology , missense mutation
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