Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality

Human Mutation

Volumn 35, Issue 3, 2014, Pages 350-355

  Belet, Stefanie ^a,b   Fieremans, Nathalie ^a,b   Yuan, Xuan ^c   Van Esch, Hilde ^d   Verbeeck, Jelle ^a,b   Ye, Zhaohui ^c   Cheng, Linzhao ^c   Brodsky, Brett R ^c   Hu, Hao ^e   Kalscheuer, Vera M ^e   Brodsky, Robert A ^c   Froyen, Guy ^a,b  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^e MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

Frameshift; GPI anchor; Intellectual disability; PIGA; Start codon

Indexed keywords

CD59 ANTIGEN; GLYCOSYLPHOSPHATIDYLINOSITOL; MESSENGER RNA; PHOSPHATIDYLINOSITOL GLYCAN CLASS A; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ANIMAL TISSUE; ANTIGEN EXPRESSION; ARTICLE; EXON; FRAMESHIFT MUTATION; GENE; GENE EXPRESSION; GENE SEQUENCE; GENETIC CODE; GENETIC COMPLEMENTATION; GENETIC VARIABILITY; HEMATOPOIETIC SYSTEM; HUMAN; HUMAN TISSUE; INTELLECTUAL IMPAIRMENT; KARYOTYPING; MALE; MOUSE; NONHUMAN; PHENOTYPE; PIGA GENE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN SYNTHESIS; X CHROMOSOME LINKED DISORDER; X LINKED INTELLECTUAL DISABILITY;

FRAMESHIFT; GPI-ANCHOR; INTELLECTUAL DISABILITY; PIGA; START CODON;

CHROMOSOMES, HUMAN, X; EXOME; EXONS; FEMALE; FRAMESHIFT MUTATION; GENES, X-LINKED; GERM-LINE MUTATION; HUMANS; INTELLECTUAL DISABILITY; MALE; MEMBRANE PROTEINS; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 84893967793     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22498     Document Type: Article

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