Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

Human mutation

Volumn 28, Issue 12, 2007, Pages 1245-

  Gerber, Sylvie ^a   Hanein, Sylvain ^a   Perrault, Isabelle ^a   Delphin, Nathalie ^a   Aboussair, Nisrine ^a   Leowski, Corinne ^a   Dufier, Jean Louis ^a   Roche, Olivier ^a   Munnich, Arnold ^a   Kaplan, Josseline ^a   Rozet, Jean Michel ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

EYE PROTEIN; LEBERCILIN PROTEIN, HUMAN; MICROTUBULE ASSOCIATED PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; FAMILY HEALTH; FEMALE; GENETICS; GENOTYPE; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PHENOTYPE;

DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FAMILY HEALTH; FEMALE; GENOTYPE; HUMANS; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MUTATION; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE; PHENOTYPE;

EID: 38449108624     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9513     Document Type: Article

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