A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

Nature Genetics

Volumn 15, Issue 3, 1997, Pages 236-246

  Allikmets, Rando ^a   Singh, Nanda ^b   Sun, Hui ^c   Shroyer, Noah F ^d   Hutchinson, Amy ^a   Chidambaram, Abirami ^a   Gerrard, Bernard ^a   Baird, Lisa ^b   Stauffer, Dora ^b   Peiffer, Andy ^b   Rattner, Amir ^c   Smallwood, Philip ^c   Li, Yixin ^d   Anderson, Kent L ^d   Lewis, Richard Alan ^d   Nathans, Jeremy ^c   Leppert, Mark ^b   Dean, Michael ^a   Lupski, James R ^d  

^a SAIC FREDERICK INC   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; LIPOFUSCIN;

ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 1P; CLINICAL ARTICLE; GENE MUTATION; GENETIC LINKAGE; HUMAN; IN SITU HYBRIDIZATION; MOLECULAR CLONING; MOUSE; NONHUMAN; ONSET AGE; PHOTORECEPTOR CELL; PRIORITY JOURNAL; PROTEIN DOMAIN; RAT; RETINA MACULA DEGENERATION; RETINA ROD; STARGARDT DISEASE;

AMINO ACID SEQUENCE; ANIMALS; ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; CHROMOSOME MAPPING; CONSANGUINITY; DNA PRIMERS; EXONS; FEMALE; GENE EXPRESSION; GENES, RECESSIVE; GENETIC MARKERS; HOMOZYGOTE; HUMANS; INTRONS; MACULAR DEGENERATION; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; PHOTORECEPTORS; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECOMBINANT PROTEINS; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID;

ANIMALIA;

EID: 0031037951     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0397-236     Document Type: Article

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