The role of a novel TRMT1 gene mutation and rare GRM1 gene defect in intellectual disability in two azeri families

PLoS ONE

Volumn 10, Issue 8, 2015, Pages

  Davarniya, Behzad ^a   Hu, Hao ^b   Kahrizi, Kimia ^a   Musante, Luciana ^b   Fattahi, Zohreh ^a   Hosseini, Masoumeh ^a   Maqsoud, Fariba ^c   Farajollahi, Reza ^c   Wienker, Thomas F ^b   Ropers, H Hilger ^b   Najmabadi, Hossein ^a  

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

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c Welfare Organization of Ardabil Province   (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

METABOTROPIC RECEPTOR 1; TRANSFER RNA METHYLTRANSFERASE; ISOPROTEIN; METABOTROPIC GLUTAMATE RECEPTOR TYPE 1; METABOTROPIC RECEPTOR;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AZERI (PEOPLE); CHILD; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; FEMALE; GENE FUNCTION; GENE SEGREGATION; GENE SEQUENCE; GENETIC LINKAGE; GENOTYPING TECHNIQUE; GRM1 GENE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MALE; NEUROPATHOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; TRMT1 GENE; ADOLESCENT; AMINO ACID SEQUENCE; BRAIN MAPPING; CHEMISTRY; CHROMOSOME SEGREGATION; DNA SEQUENCE; EXOME; FAMILY; GENETICS; GENOTYPE; IRAN; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; BRAIN MAPPING; CHILD; CHILD, PRESCHOOL; CHROMOSOME SEGREGATION; EXOME; FAMILY; FEMALE; GENETIC LINKAGE; GENOTYPE; HUMANS; INTELLECTUAL DISABILITY; IRAN; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN ISOFORMS; RECEPTORS, METABOTROPIC GLUTAMATE; SEQUENCE ANALYSIS, DNA; TRNA METHYLTRANSFERASES; YOUNG ADULT;

EID: 84943328921     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0129631     Document Type: Article

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