Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability

American Journal of Human Genetics

Volumn 90, Issue 5, 2012, Pages 856-863

  Khan, Muzammil Ahmad ^a,b   Rafiq, Muhammad Arshad ^a   Noor, Abdul ^a   Hussain, Shobbir ^c   Flores, Joana V ^c   Rupp, Verena ^d   Vincent, Akshita K ^a   Malli, Roland ^d   Ali, Ghazanfar ^b,e   Khan, Falak Sher ^b   Ishak, Gisele E ^f   Doherty, Dan ^f   Weksberg, Rosanna ^g   Ayub, Muhammad ^h,i   Windpassinger, Christian ^a,d   Ibrahim, Shahnaz ^j   Frye, Michaela ^c   Ansar, Muhammad ^b   Vincent, John B ^a,k  

^a CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^b QUAID I AZAM UNIVERSITY   (Pakistan)

^c University of Cambridge   (United Kingdom)

^d MEDICAL UNIVERSITY OF GRAZ   (Austria)

^e KING SAUD UNIVERSITY   (Saudi Arabia)

^f UNIVERSITY OF WASHINGTON   (United States)

^g HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^h The Royal College of Psychiatrists   (United Kingdom)

ⁱ DURHAM UNIVERSITY   (United Kingdom)

^j AGA KHAN UNIVERSITY   (Pakistan)

^k UNIVERSITY OF TORONTO   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

5 METHYLCYTOSINE; RNA METHYLTRANSFERASE;

ADOLESCENT; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN; CASE REPORT; CATALYSIS; CEREBELLUM; CHILD; CHROMOSOME SEGREGATION; FEMALE; HELA CELL; HOMOZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; INTELLECTUAL IMPAIRMENT; MISSENSE MUTATION; MITOSIS; MOUSE; NONHUMAN; NUCLEOLUS; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PURKINJE CELL; SINGLE NUCLEOTIDE POLYMORPHISM;

5-METHYLCYTOSINE; ADOLESCENT; AMINO ACID SEQUENCE; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; CELL LINE, TUMOR; CHILD; CHROMOSOME MAPPING; DISEASE MODELS, ANIMAL; FEMALE; GENES, RECESSIVE; GENETIC HETEROGENEITY; GENOTYPE; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; LOD SCORE; MALE; METHYLTRANSFERASES; MICE; MOLECULAR SEQUENCE DATA; PAKISTAN; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA;

EID: 84860760092     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.03.023     Document Type: Article

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