A PIGN mutation responsible for multiple congenital anomalies–hypotonia–seizures syndrome 1 (MCAHS1) in an Israeli–Arab family期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

A PIGN mutation responsible for multiple congenital anomalies–hypotonia–seizures syndrome 1 (MCAHS1) in an Israeli–Arab family

Authors:	Morad Khayat Joseph Mark Tilghman Ilana Chervinsky Lucia Zalman Aravinda Chakravarti Stavit A. Shalev

Affiliation:	1. Genetics Institute, Ha'Emek Medical center, Afula, Israel;2. Center for Complex Disease Genomics, McKusick‐Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland;3. The Hematology Laboratory, Ha'Emek Medical center, Afula, Israel;4. Rappaport Faculty of Medicine, Technion ‐ Israel Institute of Technology, Haifa, Israel;5. Correspondence to:;6. Stavit Allon Shalev, Genetics Institute, Ha'Emek Medical Center, Afula 18101, Israel.;7. E‐mail:

Abstract:

Keywords:	MCAHS1 PIGN Exome sequencing glycosylphoshatidylinositol (GPI)