Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

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Bibliographic Details
Title: Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
Authors: Nguyen TTM; Centre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada., Murakami Y; Research Institute for Microbial Diseases, Osaka University, Osaka 565-0871, Japan., Wigby KM; Department of Pediatrics, University of California, San Diego, San Diego, CA 92093, USA., Baratang NV; Centre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada., Rousseau J; Centre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada., St-Denis A; Centre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada., Rosenfeld JA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Laniewski SC; University of Rochester Medical Center, New York, NY 14642, USA., Jones J; Greenwood Genetic Center, Greenwood, SC 29646, USA., Iglesias AD; NewYork-Presbyterian Morgan Stanley Children's Hospital, New York, NY 10032, USA., Jones MC; Department of Pediatrics, University of California, San Diego, San Diego, CA 92093, USA., Masser-Frye D; Rady Children's Hospital-San Diego, San Diego, CA 92123, USA., Scheuerle AE; University of Texas, Southwestern Medical Center, Dallas, TX, USA., Perry DL; Illumina Inc., San Diego, CA 92121, USA., Taft RJ; Illumina Inc., San Diego, CA 92121, USA., Le Deist F; Centre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada., Thompson M; Department of Pediatrics, University of California, San Diego, San Diego, CA 92093, USA., Kinoshita T; Research Institute for Microbial Diseases, Osaka University, Osaka 565-0871, Japan., Campeau PM; Centre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada. Electronic address: p.campeau@umontreal.ca.
Source: American journal of human genetics [Am J Hum Genet] 2018 Oct 04; Vol. 103 (4), pp. 602-611. Date of Electronic Publication: 2018 Sep 27.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1537-6605
DOI:10.1016/j.ajhg.2018.08.014