Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders-Reference-Cited by-同舟云学术

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

Published:2017-03-22 Issue:6 Volume:25 Page:669-679
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Pagnamenta Alistair T, ,Murakami Yoshiko,Taylor John M,Anzilotti Consuelo,Howard Malcolm F,Miller Venessa,Johnson Diana S,Tadros Shereen,Mansour Sahar,Temple I Karen,Firth Rachel,Rosser Elisabeth,Harrison Rachel E,Kerr Bronwen,Popitsch Niko,Kinoshita Taroh,Taylor Jenny C,Kini Usha

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201732.pdf

Reference49 articles.

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2. Ng BG, Freeze HH : Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL). J Inherit Metab Dis 2015; 38: 171–178.

3. Takeda J, Miyata T, Kawagoe K et al: Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell 1993; 73: 703–711.

4. Belet S, Fieremans N, Yuan X et al: Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality. Hum Mutat 2014; 35: 350–355.

5. Johnston JJ, Gropman AL, Sapp JC et al: The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. Am J Hum Genet 2012; 90: 295–300.

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