Mutations in NSUN2 cause autosomal- Recessive intellectual disability

American Journal of Human Genetics

Volumn 90, Issue 5, 2012, Pages 847-855

  Abbasi Moheb, Lia ^a,b   Mertel, Sara ^c   Gonsior, Melanie ^c   Nouri Vahid, Leyla ^b   Kahrizi, Kimia ^b   Cirak, Sebahattin ^d   Wieczorek, Dagmar ^e   Motazacker, M Mahdi ^a   Esmaeeli Nieh, Sahar ^a,h   Cremer, Kirsten ^e   Weißmann, Robert ^f   Tzschach, Andreas ^a,i   Garshasbi, Masoud ^a,j   Abedini, Seyedeh S ^b   Najmabadi, Hossein ^b   Ropers, H Hilger ^a   Sigrist, Stephan J ^c,g   Kuss, Andreas W ^a,f  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

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

^c FREIE UNIVERSITÄT BERLIN   (Germany)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e UNIVERSITY HOSPITAL ESSEN   (Germany)

^f UNIVERSITY MEDICINE GREIFSWALD   (Germany)

^g CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^h UNIVERSITY OF CALIFORNIA   (United States)

ⁱ UNIVERSITY OF TÜBINGEN   (Germany)

^j TARBIAT MODARES UNIVERSITY   (Iran)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; METHYLTRANSFERASE; MUTANT PROTEIN; NSUN2 PROTEIN; PROTEIN; TRANSFER RNA; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BODY HEIGHT; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DROSOPHILA MELANOGASTER; EXON; FACE DYSMORPHIA; FEMALE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; INTRON; IRAN; LEARNING; MALE; MICROCEPHALY; MUSCLE HYPERTONIA; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA METHYLATION; SCHOOL CHILD; SHORT STATURE; SHORT TERM MEMORY; STRABISMUS; WILD TYPE;

ADOLESCENT; ADULT; ANIMALS; CHILD; CLONING, MOLECULAR; CODON, NONSENSE; CONSANGUINITY; DROSOPHILA; EXONS; FEMALE; GENES, RECESSIVE; GENETIC LINKAGE; GENOTYPE; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MALE; METHYLTRANSFERASES; MIDDLE AGED; PEDIGREE; PHENOTYPE; YOUNG ADULT;

DROSOPHILA MELANOGASTER;

EID: 84860741715     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.03.021     Document Type: Article

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