Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation

American Journal of Human Genetics

Volumn 91, Issue 1, 2012, Pages 146-151

  Krawitz, Peter M ^a,b   Murakami, Yoshiko ^c   Hecht, Jochen ^a,b   Krüger, Ulrike ^a   Holder, Susan E ^d   Mortier, Geert R ^e   Delle Chiaie, Barbara ^f   De Baere, Elfride ^f   Thompson, Miles D ^g   Roscioli, Tony ^h,i   Kielbasa, Szymon ^j   Kinoshita, Taroh ^c   Mundlos, Stefan ^a,b   Robinson, Peter N ^a,b   Horn, Denise ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c OSAKA UNIVERSITY   (Japan)

^d EALING HOSPITAL NHS TRUST   (United Kingdom)

^e ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^f GHENT UNIVERSITY HOSPITAL   (Belgium)

^g UNIVERSITY OF TORONTO   (Canada)

^h UNIVERSITY OF NEW SOUTH WALES   (Australia)

ⁱ RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^j LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

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Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN;

ADOLESCENT; ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CELL SURFACE; CHILD; EXOME; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME; INTELLECTUAL IMPAIRMENT; NONHUMAN; NUCLEOTIDE SEQUENCE; PHOSPHATIDYLINOSITOL GLYCAN CLASS O GENE; PRIORITY JOURNAL; PROTEIN STABILITY; PROTEIN SYNTHESIS; SCHOOL CHILD; SIBLING;

ADOLESCENT; ALKALINE PHOSPHATASE; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; INTELLECTUAL DISABILITY; MEMBRANE PROTEINS; MODELS, MOLECULAR; MUTATION; PEDIGREE; SYNDROME;

EID: 84863985546     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.05.004     Document Type: Article

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