Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

European Journal of Human Genetics

Volumn 18, Issue 12, 2010, Pages 1360-1363

  Cacciagli, Pierre ^a   Haddad, Marie Reine ^a,b   Mignon Ravix, Cécile ^a,b   El Waly, Bilal ^a,b   Moncla, Anne ^a,b   Missirian, Chantal ^a,b   Chabrol, Brigitte ^a   Villard, Laurent ^a,b  

^a TIMONE HOSPITAL   (France)

^b AIX MARSEILLE UNIVERSITY   (France)

Author keywords

10p12; 13q12; Atp8a2; chromosome aberrations; mental retardation

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ADENOSINE TRIPHOSPHATASE 8A2; UNCLASSIFIED DRUG;

ANIMAL TISSUE; ARTICLE; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; DEVELOPMENTAL STAGE; DISEASE SEVERITY; EMBRYO; FEMALE; GENE DISRUPTION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; HUMAN CELL; HUMAN TISSUE; IN SITU HYBRIDIZATION; MENTAL DEFICIENCY; MOUSE; MUSCLE HYPOTONIA; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE HOMOLOGY;

ADENOSINE TRIPHOSPHATASES; ANIMALS; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 13; FEMALE; GENE EXPRESSION PROFILING; GENETIC TESTING; HUMANS; INFANT; INFANT, NEWBORN; MICE; MUTATION; NERVOUS SYSTEM DISEASES; PHENOTYPE; PHOSPHOLIPID TRANSFER PROTEINS; PREGNANCY; TRANSLOCATION, GENETIC;

EID: 78549241926     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.126     Document Type: Article

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