Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

Nature Genetics

Volumn 44, Issue 9, 2012, Pages 975-977

  Perrault, Isabelle ^a   Hanein, Sylvain ^a   Zanlonghi, Xavier ^b   Serre, Valérie ^a   Nicouleau, Michael ^a   Defoort Delhemmes, Sabine ^c   Delphin, Nathalie ^a   Fares Taie, Lucas ^a   Gerber, Sylvie ^a   Xerri, Olivia ^a   Edelson, Catherine ^d   Goldenberg, Alice ^e   Duncombe, Alice ^e   Le Meur, Gylã̈ne ^f   Hamel, Christian ^g   Silva, Eduardo ^h   Nitschke, Patrick ⁱ   Calvas, Patrick ^j   Munnich, Arnold ^a   Roche, Olivier ⁱ   Dollfus, Hélène ^k   Kaplan, Josseline ^a   Rozet, Jean Michel ^a   more..

^a INSERM   (France)

^b Clinique Sourdille   (France)

^c LILLE UNIVERSITY HOSPITAL   (France)

^d Fondation Ophtalmologique Adolphe de Rothschild ^*  (France)

^e ROUEN UNIVERSITY HOSPITAL   (France)

^f NANTES UNIVERSITY HOSPITAL   (France)

^g HÔPITAL SAINT ELOI   (France)

^h CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

ⁱ UNIVERSITÉ PARIS DESCARTES   (France)

^j CHU PURPAN   (France)

^k UNIVERSITY HOSPITAL OF STRASBOURG   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; GENE; GENE FREQUENCY; GENE MUTATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; LEBER CONGENITAL AMAUROSIS; LEBER HEREDITARY OPTIC NEUROPATHY; MUTATIONAL ANALYSIS; NERVE DEGENERATION; NEUROPROTECTION; NMNAT1 GENE; PHOTORECEPTOR CELL; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LEBER CONGENITAL AMAUROSIS; MACULAR DEGENERATION; MUTATION; NICOTINAMIDE-NUCLEOTIDE ADENYLYLTRANSFERASE; OPTIC ATROPHY; POLYMORPHISM, SINGLE NUCLEOTIDE; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 84865680230     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2357     Document Type: Article

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