A novel mutation inPIGWcauses glycosylphosphatidylinositol deficiency without hyperphosphatasia-Reference-Cited by-同舟云学术

A novel mutation inPIGWcauses glycosylphosphatidylinositol deficiency without hyperphosphatasia

Published:2016-09-14 Issue:12 Volume:170 Page:3319-3322
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Hogrebe Max¹,Murakami Yoshiko²,Wild Martin³,Ahlmann Martina⁴,Biskup Saskia⁵,Hörtnagel Konstanze⁵,Grüneberg Marianne¹,Reunert Janine¹,Linden Tobias⁶,Kinoshita Taroh²,Marquardt Thorsten¹

Affiliation:

1. Universitätsklinikum Münster; Klinik für Kinder- und Jugendmedizin; Albert-Schweitzer-Campus 1; Münster Germany

2. Department of Immunoregulation; Research Institute for Microbial Diseases and Laboratory of Immunoglycobiology; WPI Immunology Frontier Research Center; Osaka University; Osaka Japan

3. Max Planck Institute for Molecular Biomedicine; Muenster Germany

4. Universitätsklinikum Münster; Pädiatrische Hämatologie und Onkologie; Albert-Schweitzer-Campus 1; Münster Germany

5. CeGaT GmbH; Tübingen Germany

6. Kinderklinik Oldenburg; Klinik für Neuropädiatrie und angeborene Stoffwechselerkrankungen; Oldenburg Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference18 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

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

3. Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome;Chiyonobu;J Med Genet,2014

4. A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-;Fauth;Am J Med Genet Part A,2016

5. Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy;Fleming;Am J Med Genet Part A,2016

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