Whole exome sequencing identifies de novo heterozygousCAV1mutations associated with a novel neonatal onset lipodystrophy syndrome
出版年份 2015 全文链接
标题
Whole exome sequencing identifies de novo heterozygousCAV1mutations associated with a novel neonatal onset lipodystrophy syndrome
作者
关键词
-
出版物
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 167, Issue 8, Pages 1796-1806
出版商
Wiley
发表日期
2015-04-22
DOI
10.1002/ajmg.a.37115
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease
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- Mutations in PIK3R1 Cause SHORT Syndrome
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- (2010) Anil K. Agarwal et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia
- (2008) Henian Cao et al. Lipids in Health and Disease
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