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

European Journal of Human Genetics

Volumn 25, Issue 6, 2017, Pages 669-679

  Pagnamenta, Alistair T ^a   Murakami, Yoshiko ^b,c   Taylor, John M ^d   Anzilotti, Consuelo ^e   Howard, Malcolm F ^a   Miller, Venessa ^d   Johnson, Diana S ^f   Tadros, Shereen ^g   Mansour, Sahar ^g   Temple, I Karen ^h   Firth, Rachel ^h   Rosser, Elisabeth ⁱ   Harrison, Rachel E ^j   Kerr, Bronwen ^k   Popitsch, Niko ^a   Kinoshita, Taroh ^b,c   Taylor, Jenny C ^a   Kini, Usha ^d  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b OSAKA UNIVERSITY   (Japan)

^c OSAKA UNIVERSITY   (Japan)

^d OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^e UNIVERSITY OF OXFORD   (United Kingdom)

^f SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^g ST GEORGE'S UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^h UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

ⁱ GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^j NOTTINGHAM UNIVERSITY HOSPITALS NHS TRUST   (United Kingdom)

^k UNIVERSITY OF MANCHESTER   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; ASPARTIC ACID; GLYCOSYLPHOSPHATIDYLINOSITOL; RNA; TRYPTOPHAN; ACYLTRANSFERASE; CELL SURFACE RECEPTOR; COOH-TERMINAL SIGNAL TRANSAMIDASE; GLYCOSYLPHOSPHATIDYLINOSITOL ETHANOLAMINE PHOSPHATE TRANSFERASE 1, HUMAN; MEMBRANE PROTEIN; N ACETYLGLUCOSAMINYLTRANSFERASE; PGAP3 PROTEIN, HUMAN; PHOSPHOTRANSFERASE; PIGL PROTEIN, HUMAN; PIGO PROTEIN, HUMAN;

AMINO ACID SEQUENCE; ARTICLE; BIOGENESIS; CHROMOSOME 2; DEVELOPMENTAL DISORDER; EXOME; EXON; EXON SKIPPING; FATHER; FEMALE; FLUORESCENCE ACTIVATED CELL SORTING; GENE; GENE SEGREGATION; GENETIC VARIABILITY; HEK293 CELL LINE; HOMOZYGOSITY; HUMAN; MALE; MOTHER; MULTIGENE FAMILY; PGAP3 GENE; PIGL GENE; PIGN GENE; PIGO GENE; PIGT GENE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; PROTEIN STABILITY; SANGER SEQUENCING; TRANSIENT TRANSFECTION; WESTERN BLOTTING; WHOLE EXOME SEQUENCING; ADULT; CHILD; GENETICS; HETEROZYGOTE; HOMOZYGOTE; METABOLISM; PATHOLOGY; PEDIGREE; SINGLE NUCLEOTIDE POLYMORPHISM;

ACYLTRANSFERASES; ADULT; CHILD; DEVELOPMENTAL DISABILITIES; EXOME; HEK293 CELLS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MEMBRANE PROTEINS; N-ACETYLGLUCOSAMINYLTRANSFERASES; PEDIGREE; PHOSPHOTRANSFERASES; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, CELL SURFACE;

EID: 85015861496     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2017.32     Document Type: Article

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