Early Frameshift Mutation inPIGAIdentified in a Large XLID Family Without Neonatal Lethality-Reference-Cited by-同舟云学术

Early Frameshift Mutation inPIGAIdentified in a Large XLID Family Without Neonatal Lethality

Published:2014-01-13 Issue:3 Volume:35 Page:350-355
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Belet Stefanie¹²,Fieremans Nathalie¹²,Yuan Xuan³,Van Esch Hilde⁴,Verbeeck Jelle¹²,Ye Zhaohui³,Cheng Linzhao³,Brodsky Brett R.³,Hu Hao⁵,Kalscheuer Vera M.⁵,Brodsky Robert A.³,Froyen Guy¹²

Affiliation:

1. Human Genome Laboratory; VIB Center for the Biology of Disease; Leuven Belgium

2. Human Genome Laboratory; Department of Human Genetics; KU Leuven; Leuven Belgium

3. Division of Hematology, Department of Medicine; John Hopkins University; Baltimore Maryland

4. University Hospitals Leuven; Center for Human Genetics, KU Leuven; Leuven Belgium

5. Max Planck Institute for Molecular Genetics; Department of Human Molecular Genetics; Berlin Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference33 articles.

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2. Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene;Bessler;EMBO J,1994

3. Narrative review: paroxysmal nocturnal hemoglobinuria: the physiology of complement-related hemolytic anemia;Brodsky;Ann Intern Med,2008

4. Improved detection and characterization of paroxysmal nocturnal hemoglobinuria using fluorescent aerolysin;Brodsky;Am J Clin Pathol,2000

5. The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees;Claes;Ann Neurol,1997

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