Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation

American Journal of Human Genetics

Volumn 94, Issue 2, 2014, Pages 278-287

  Howard, Malcolm F ^a   Murakami, Yoshiko ^b,c   Pagnamenta, Alistair T ^a   Daumer Haas, Cornelia ^d   Fischer, Björn ^e,f   Hecht, Jochen ^e,f   Keays, David A ^g   Knight, Samantha J L ^a   Kölsch, Uwe ^e   Krüger, Ulrike ^e   Leiz, Steffen ^h   Maeda, Yusuke ^b,c   Mitchell, Daphne ⁱ   Mundlos, Stefan ^e,f   Phillips III, John A ⁱ   Robinson, Peter N ^e,f   Kini, Usha ^j   Taylor, Jenny C ^a   Horn, Denise ^e   Kinoshita, Taroh ^b,c   Krawitz, Peter M ^e,f   more..

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b OSAKA UNIVERSITY   (Japan)

^c OSAKA UNIVERSITY   (Japan)

^d Frauenärtze und Humangenetiker   (Germany)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^f MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^g RESEARCH INSTITUTE OF MOLECULAR PATHOLOGY   (Austria)

^h Klinikum Dritter Orden   (Germany)

ⁱ VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

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

more..

Author keywords

[No Author keywords available]

Indexed keywords

ABNORMALITIES, MULTIPLE; ALKALINE PHOSPHATASE; AMINO ACID SEQUENCE; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; CHO CELLS; CHROMOSOME MAPPING; CONSANGUINITY; CRICETINAE; CRICETULUS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXOME; FEMALE; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PAKISTAN; PEDIGREE; PHOSPHORUS METABOLISM DISORDERS; PHYLOGENY; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, CELL SURFACE; SAUDI ARABIA; UNITED STATES;

EID: 84893759924     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.12.012     Document Type: Article

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