PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome-Reference-Cited by-同舟云学术

PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome

Published:2013-04 Issue:4 Volume:92 Page:584-589
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Krawitz Peter M.,Murakami Yoshiko,Rieß Angelika,Hietala Marja,Krüger Ulrike,Zhu Na,Kinoshita Taroh,Mundlos Stefan,Hecht Jochen,Robinson Peter N.,Horn Denise

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference22 articles.

1. Congenital disorders of glycosylation (CDG): it’s (nearly) all in it!;Jaeken;J. Inherit. Metab. Dis.,2011

2. Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum;Horn;Am. J. Med. Genet. A.,2011

3. Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation;Krawitz;Am. J. Hum. Genet.,2012

4. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome;Krawitz;Nat. Genet.,2010

5. Familial hyperphosphatase with mental retardation, seizures, and neurologic deficits;Mabry;J. Pediatr.,1970

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