Inactivation of the CDKL3 gene at 5q31.1 by a balanced t(X;5) translocation associated with nonspecific mild mental retardation

American Journal of Medical Genetics, Part A

Volumn 146, Issue 10, 2008, Pages 1267-1279

  Dubos, Aline ^a   Pannetier, Solange ^a   Hanauer, André ^a  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

(X; autosome) translocation; Autosomic dominant; CDKL3; Nonsyndromic mental retardation

Indexed keywords

CYCLIN DEPENDENT KINASE 1; MESSENGER RNA PRECURSOR; MITOGEN ACTIVATED PROTEIN KINASE;

ADULT; ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRAIN FUNCTION; CASE REPORT; CDKL3 GENE; CHROMOSOME 5Q; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE; GENE AMPLIFICATION; GENE EXPRESSION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; IMMUNOBLOTTING; INFANTILE SPASM; INTRON; LYMPHOBLASTOID CELL; LYMPHOCYTE; MENTAL DEFICIENCY; METHYLATION; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FAMILY; QUANTITATIVE ANALYSIS; RETT SYNDROME; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; X CHROMOSOME; X CHROMOSOME INACTIVATION;

ANIMALS; B-LYMPHOCYTES; CELL LINE, TRANSFORMED; CHROMOSOMES, HUMAN, PAIR 5; CHROMOSOMES, HUMAN, X; FEMALE; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; MICE; PROTEIN-SERINE-THREONINE KINASES; TRANSLOCATION, GENETIC; X CHROMOSOME INACTIVATION;

EID: 43049089394     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32274     Document Type: Article

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