APIGNmutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family-Reference-Cited by-同舟云学术

APIGNmutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family

Published:2015-09-14 Issue:1 Volume:170 Page:176-182
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Khayat Morad¹,Tilghman Joseph Mark²,Chervinsky Ilana¹,Zalman Lucia³,Chakravarti Aravinda²,Shalev Stavit A.¹⁴

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

Funder

Technion, Israel Institute of Technology

Johns Hopkins University

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference17 articles.

1. Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency;Almeida;Nat Med,2006

2. Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia;Brady;Eur J Med Genet,2014

3. Neurology of inherited glycosylation disorders;Freeze;Lancet Neurol,2012

4. Hypomorphic mutations in PGAP2, encoding a GPI-anchor remodeling protein, cause autosomal-recessive intellectual disability;Hansen;Am J Hum Genet,2013

5. Pig-n, amammalian homologue of yeastMcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol;Hong;J Biol Chem,1999

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