Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

American Journal of Human Genetics

Volumn 85, Issue 6, 2009, Pages 909-915

  Mir, Asif ^a   Kaufman, Liana ^b   Noor, Abdul ^b   Motazacker, Mahdi M ^c   Jamil, Talal ^a   Azam, Matloob ^d   Kahrizi, Kimia ^e   Rafiq, Muhammad Arshad ^b   Weksberg, Rosanna ^f   Nasr, Tanveer ^g,h   Naeem, Farooq ^i,j   Tzschach, Andreas ^c   Kuss, Andreas W ^c   Ishak, Gisele E ^k   Doherty, Dan ^k   Ropers, H Hilger ^c   Barkovich, A James ^l   Najmabadi, Hossein ^e   Ayub, Muhammad ^g,m   Vincent, John B ^b,n  

^a Department of Electrical Computer Engineering   (Pakistan)

^b CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^d PAKISTAN INSTITUTE OF MEDICAL SCIENCES   (Pakistan)

^e UNIVERSITY OF SOCIAL WELFARE AND REHABILITATION SCIENCES   (Iran)

^f HOSPITAL FOR SICK CHILDREN   (Canada)

^g MAYO HOSPITAL   (Pakistan)

^h Chaudhry Hospital   (Pakistan)

ⁱ UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^j Lahore Institute of Research and Development   (Pakistan)

^k UNIVERSITY OF WASHINGTON   (United States)

^l UNIVERSITY OF CALIFORNIA   (United States)

^m St Luke's Hospital   (United Kingdom)

ⁿ UNIVERSITY OF TORONTO   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN ENHANCER BINDING PROTEIN;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME 8Q; CLINICAL ARTICLE; EXON; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENOTYPE; HOMOZYGOSITY; HUMAN; HYPOPLASIA; MALE; MENTAL DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; TRAPPC9 GENE; WHITE MATTER;

ADOLESCENT; ADULT; BRAIN; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; FEMALE; GENES, RECESSIVE; HUMANS; I-KAPPA B KINASE; LOD SCORE; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MENTAL RETARDATION; MICROSATELLITE REPEATS; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN BINDING; PROTEIN-SERINE-THREONINE KINASES; PROTEINS;

EID: 71149100260     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2009.11.009     Document Type: Article

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