CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa

American Journal of Human Genetics

Volumn 82, Issue 4, 2008, Pages 1011-1018

  Noor, Abdul ^a   Windpassinger, Christian ^a,b   Patel, Megha ^a   Stachowiak, Beata ^a   Mikhailov, Anna ^a   Azam, Matloob ^c   Irfan, Muhammad ^d   Siddiqui, Zahid Kamal ^e   Naeem, Farooq ^f   Paterson, Andrew D ^g   Lutfullah, Muhammad ^h   Vincent, John B ^a   Ayub, Muhammad ⁱ  

^a CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^b MEDICAL UNIVERSITY OF GRAZ   (Austria)

^c PAKISTAN INSTITUTE OF MEDICAL SCIENCES   (Pakistan)

^d Lahore Institute of Research and Development   (Pakistan)

^e Ameeruddin Medical College PGMI Lahore General Hospital M Phil Stud   (Pakistan)

^f Sheikh Zayed Hospital   (Pakistan)

^g HOSPITAL FOR SICK CHILDREN   (Canada)

^h MAYO HOSPITAL   (Pakistan)

ⁱ St Luke's Hospital   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CALCIUM SIGNALING; CARBOXY TERMINAL SEQUENCE; CC2D2A GENE; CHROMOSOME 4P; CONSANGUINITY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC LINKAGE; HOMOZYGOSITY; HUMAN; MALE; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MOUSE; NERVE CELL DIFFERENTIATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PAKISTAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; RAT; RETINITIS PIGMENTOSA;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANIMALS; CALCIUM; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 4; CONSANGUINITY; EXONS; FEMALE; FRAMESHIFT MUTATION; HAPLOTYPES; HOMOZYGOTE; HUMANS; LOD SCORE; MALE; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PAKISTAN; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; PROTEINS; RETINITIS PIGMENTOSA; RNA SPLICING;

EID: 41649110399     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2008.01.021     Document Type: Article

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