A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child

Journal of Molecular Neuroscience

Volumn 57, Issue 3, 2015, Pages 393-399

  Komara, Makanko ^a   Al Shamsi, Aisha M ^b   Ben Salem, Salma ^a   Ali, Bassam R ^a   Al Gazali, Lihadh ^a  

^a UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^b TAWAM HOSPITAL   (United Arab Emirates)

Author keywords

Intellectual disability; NSUN2; tRNA methylation; UAE

Indexed keywords

MESSENGER RNA; NOP2 SUN TRANSFER RNA METHYLTRANSFERASE 2; TRANSFER RNA METHYLTRANSFERASE; UNCLASSIFIED DRUG; EIF2AK3 PROTEIN, HUMAN; METHYLTRANSFERASE; NSUN2 PROTEIN, HUMAN; PROTEIN KINASE R; STOP CODON;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; CHROMOSOME SEGREGATION; EMIRATI; EXOME; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC VARIABILITY; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON; ADOLESCENT; AMINO ACID SEQUENCE; ARAB; BEHAVIOR DISORDER; BIOSYNTHESIS; CONSANGUINITY; DNA METHYLATION; FRAMESHIFT MUTATION; GENETICS; MISSENSE MUTATION; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PHYSIOLOGY; RECESSIVE GENE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; AMINO ACID SEQUENCE; ARABS; BASE SEQUENCE; CHILD BEHAVIOR DISORDERS; CODON, NONSENSE; CONSANGUINITY; DNA METHYLATION; EIF-2 KINASE; FRAMESHIFT MUTATION; GENES, RECESSIVE; HUMANS; INTELLECTUAL DISABILITY; MALE; METHYLTRANSFERASES; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; RNA, MESSENGER; SEQUENCE DELETION;

EID: 84944275169     PISSN: 08958696     EISSN: 15591166     Source Type: Journal    
DOI: 10.1007/s12031-015-0592-8     Document Type: Article

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