A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism

Author:

Nguyen Thi Tuyet Mai1,Mahida Sonal2,Smith-Hicks Constance2,Campeau Philippe M.13ORCID

Affiliation:

1. CHU Sainte-Justine Research Center; University of Montreal; Montreal QC Canada

2. Department of Neurogenetics; Kennedy Krieger Institute; Baltimore Maryland

3. Department of Pediatrics; University of Montreal; Montreal QC Canada

Funder

Institute of Genetics

Fonds de Recherche du Québec - Santé

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference14 articles.

1. Stereochemical criteria for prediction of the effects of proline mutations on protein stability;Bajaj;PLoS Computational Biology,2007

2. Advances in the diagnosis and therapy of paroxysmal nocturnal hemoglobinuria;Brodsky;Blood Reviews,2008

3. Biosynthesis of the glycosyl phosphatidylinositol membrane anchor of the trypanosome variant surface glycoprotein. Origin of the non-acetylated glucosamine;Doering;Journal of Biological Chemistry,1989

4. Mutations in PIGY: Expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies;Ilkovski;Human Molecular Genetics,2015

5. Correction of the class H defect in glycosylphosphatidylinositol anchor biosynthesis in Ltk- cells by a human cDNA clone;Kamitani;Journal of Biological Chemistry,1993

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