CRB1 mutations in inherited retinal dystrophies

Human Mutation

Volumn 33, Issue 2, 2012, Pages 306-315

  Bujakowska, Kinga ^a,b,c   Audo, Isabelle ^a,b,c,d,e   Mohand Säid, Saddek ^a,b,c,d   Lancelot, Marie Elise ^a,b,c   Antonio, Aline ^a,b,c,d   Germain, Aurore ^a,b,c   eveillard, Thierry Ĺ ^a,b,c   Letexier, Ḿelanie ^f   Saraiva, Jean Paul ^f   Lonjou, Christine ^g   Carpentier, Wassila ^g   Sahel, Jośe Alain ^a,b,c,d,e,h   Bhattacharya, Shomi S ^a,b,c,e,i   Zeitz, Christina ^a,b,c  

^a INSERM   (France)

^b CNRS   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d CENTRE HOSPITALIER NATIONAL D OPHTALMOLOGIE DES QUINZE VINGTS   (France)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f IntegraGen SA   (France)

^g PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^h FONDATION OPHTALMOLOGIQUE ADOLPHE DE ROTHSCHILD   (France)

ⁱ CABIMER Andalusian Center for Molecular Biology and Regenerative Medicine CSIC University of Seville UPO   (Spain)

Author keywords

CRB1; LCA; Retinitis pigmentosa; Rod cone dystrophy; RP

Indexed keywords

CRUMBS HOMOLOGUE 1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL FEATURE; COHORT ANALYSIS; GENE IDENTIFICATION; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; META ANALYSIS; MISSENSE MUTATION; NONHUMAN; PATHOGENICITY; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; RETINA DYSTROPHY;

EYE PROTEINS; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MEMBRANE PROTEINS; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; PREVALENCE; RETINAL DYSTROPHIES;

EID: 84857782236     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21653     Document Type: Article

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