CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592

European Journal of Human Genetics

Volumn 18, Issue 10, 2010, Pages 1107-1113

  Nicolas, Elsa ^a,b   Poitelon, Yannick ^a   Chouery, Eliane ^b   Salem, Nabiha ^b   Levy, Nicolas ^a,c   Mégarbané, André ^a,b   Delague, Valérie ^a  

^a AIX MARSEILLE UNIVERSITY   (France)

^b SAINT JOSEPH UNIVERSITY   (Lebanon)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE MARSEILLE   (France)

Author keywords

C2H2 zinc finger domain; CAMOS; cerebellar ataxia; missense mutation; nonprogressive; ZNF592

Indexed keywords

DNA; MUTANT PROTEIN; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN; ZNF592 PROTEIN;

ACCURACY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CEREBELLAR ATAXIA; CHROMOSOME 15Q; CONTROLLED STUDY; DNA BINDING; FAMILY; GENE CONTROL; GENE IDENTIFICATION; GENE LOCATION; GENE MAPPING; GENETIC SCREENING; HUMAN; MISSENSE MUTATION; MOLECULAR INTERACTION; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 15; DISEASE PROGRESSION; DNA-BINDING PROTEINS; FAMILY HEALTH; GENE EXPRESSION REGULATION; GENES, RECESSIVE; GENETIC LINKAGE; GENETIC MARKERS; HUMANS; LEBANON; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION, MISSENSE; SPINOCEREBELLAR DEGENERATIONS; ZINC FINGERS;

EID: 77957133695     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.82     Document Type: Article

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