Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

Nature Genetics

Volumn 24, Issue 1, 2000, Pages 79-83

  Sohocki, Melanie M ^a   Bowne, Sara J ^a   Sullivan, Lori S ^a,b   Blackshaw, Seth ^c   Cepko, Constance L ^c   Payne, Annette M ^d   Bhattacharya, Shomi S ^d   Khaliq, Shagufta ^e   Mehdi, S Qasim ^e   Birch, David G ^f   Harrison, Wilbur R ^b   Elder, Frederick F B ^b   Heckenlively, John R ^g   Daiger, Stephen P ^a,b  

^a UNIVERSITY OF TEXAS SCHOOL OF PUBLIC HEALTH   (United States)

^b UNIVERSITY OF TEXAS   (United States)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e Dr A Q Khan Research Laboratories   (Pakistan)

^f RETINA FOUNDATION OF THE SOUTHWEST   (United States)

^g JULES STEIN EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 17P; CLINICAL FEATURE; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; HUMAN; LEBER CONGENITAL AMAUROSIS; NUCLEOTIDE SEQUENCE; PHOTORECEPTOR; PINEAL BODY; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; BASE SEQUENCE; CARRIER PROTEINS; CHROMOSOMES, HUMAN, PAIR 17; DNA, COMPLEMENTARY; FEMALE; HOMOZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUTATION; OPTIC ATROPHIES, HEREDITARY; PEDIGREE; PHOTORECEPTORS, VERTEBRATE; PINEAL GLAND; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0033985972     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/71732     Document Type: Article

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