A novel mutation in JARID1C gene associated with mental retardation

European Journal of Human Genetics

Volumn 14, Issue 5, 2006, Pages 583-586

  Santos, Cristina ^a,b   Rodriguez Revenga, Laia ^a,b   Madrigal, Irene ^a,b   Badenas, Celia ^a,b   Pineda, Merce ^a   Milá, Montserrat ^a,b  

^a HOSPITAL CLÍNIC   (Spain)

^b INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

Author keywords

JARID1C gene; Mutational screening; Novel mutation; X linked mental retardation

Indexed keywords

ARGININE; DNA; DNA BINDING PROTEIN; JARID1C PROTEIN; JUMONJI AT RICH INTERACTIVE DOMAIN 1C PROTEIN; SERINE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CHROMATIN STRUCTURE; CLINICAL ARTICLE; DNA BINDING MOTIF; DNA MODIFICATION; DROSOPHILA; EXON; FAMILY STUDY; GENE MUTATION; GENE SEGREGATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC SCREENING; HUMAN; HUMAN CELL; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN FAMILY; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; TRANSCRIPTION REGULATION; X LINKED MENTAL RETARDATION;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOMES, HUMAN, X; DNA MUTATIONAL ANALYSIS; EXONS; HUMANS; LINKAGE (GENETICS); MALE; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; PROTEINS;

DROSOPHILA MELANOGASTER;

EID: 33646045352     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201608     Document Type: Article

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