Spectrum of SPATA7 mutations in leber congenital amaurosis and delineation of the associated phenotype

Human Mutation

Volumn 31, Issue 3, 2010, Pages

  Perrault, Isabelle ^a   Hanein, Sylvain ^a   Gerard, Xavier ^b   Delphin, Nathalie ^a   Fares Taie, Lucas ^a   Gerber, Sylvie ^a   Pelletier, Valérie ^c   Mercé, Emilie ^a   Dollfus, Hélène ^c   Puech, Bernard ^d   Defoort Dhellemmes, Sabine ^d   Petersen, Michael D ^e   Zafeiriou, Dimitrios ^f   Munnich, Arnold ^a   Kaplan, Josseline ^a   Roche, Olivier ^g   Rozet, Jean Michel ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b GÉNÉTHON   (France)

^c UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^d LILLE UNIVERSITY HOSPITAL   (France)

^e Institute of Child Health   (Greece)

^f ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^g HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Leber congenital amaurosis; Mutational spectrum; Rod cone dystrophy type; SPATA7

Indexed keywords

ARTICLE; BRAIN; CLINICAL EVALUATION; CONTROLLED STUDY; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; LEBER CONGENITAL AMAUROSIS; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RETINA; RETINA DEGENERATION; SPATA7 GENE; TESTIS;

ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA-BINDING PROTEINS; FEMALE; HUMANS; LEBER CONGENITAL AMAUROSIS; MALE; MUTATION; PHENOTYPE; RETINA; RETINITIS PIGMENTOSA; SYNDROME;

EID: 77149180383     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21203     Document Type: Article

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