Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

Human Mutation

Volumn 37, Issue 8, 2016, Pages 737-744

  Knaus, Alexej ^a,b   Awaya, Tomonari ^c   Helbig, Ingo ^d,e   Afawi, Zaid ^f   Pendziwiat, Manuela ^e   Abu Rachma, Jubran ^f   Thompson, Miles D ^g   Cole, David E ^g   Skinner, Steve ^h   Annese, Fran ^h   Canham, Natalie ⁱ   Schweiger, Michal R ^j   Robinson, Peter N ^a,b   Mundlos, Stefan ^a,b   Kinoshita, Taroh ^k,l   Munnich, Arnold ^m   Murakami, Yoshiko ^k,l   Horn, Denise ^a   Krawitz, Peter M ^a,b  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^e UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^f TEL AVIV UNIVERSITY   (Israel)

^g UNIVERSITY OF TORONTO   (Canada)

^h GREENWOOD GENETIC CENTER   (United States)

ⁱ NORTHWICK PARK HOSPITAL   (United Kingdom)

^j UNIVERSITY OF COLOGNE   (Germany)

^k OSAKA UNIVERSITY   (Japan)

^l OSAKA UNIVERSITY   (Japan)

^m HÔPITAL NECKER ENFANTS MALADES   (France)

more..

Author keywords

hyperphosphatasia with mental retardation; intellectual disability; Mabry syndrome; noncoding mutations; PGAP3

Indexed keywords

GLYCOSYLPHOSPHATIDYLINOSITOL; MESSENGER RNA;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; GENE MUTATION; GENE PGAP3; GENETIC SCREENING; HUMAN; HUMAN CELL; HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME; INTELLECTUAL IMPAIRMENT; INTRON; MARKER GENE; MENTAL DEFICIENCY; MISSENSE MUTATION; PRIORITY JOURNAL;

EID: 84978139030     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23006     Document Type: Article

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