Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX

Human Mutation

Volumn 18, Issue 6, 2001, Pages 488-498

  Rivolta, Carlo ^a   Berson, Eliot L ^a   Dryja, Thaddeus P ^a  

^a MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

Author keywords

Cone rod degeneration; Congenital retinal blindness; CORD; CRX; Homeobox gene; Inherited retinopathy; LCA1; Leber congenital amaurosis; Retinitis pigmentosa; RP; Transcription factor

Indexed keywords

GENE PRODUCT; PROTEIN CRX; UNCLASSIFIED DRUG;

DISEASE ASSOCIATION; FRAMESHIFT MUTATION; GENE MUTATION; HOMEOBOX; HUMAN; LEBER CONGENITAL AMAUROSIS; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; RETINA DEGENERATION; RETINITIS PIGMENTOSA; REVIEW;

GENES, DOMINANT; HOMEODOMAIN PROTEINS; HUMANS; MUTATION; OPTIC ATROPHY, HEREDITARY, LEBER; RETINITIS PIGMENTOSA; TRANS-ACTIVATORS;

EID: 0035206015     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.1226     Document Type: Review

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