Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration

Investigative Ophthalmology and Visual Science

Volumn 42, Issue 10, 2001, Pages 2229-2236

  Briggs, C E ^a   Rucinski, D ^a   Rosenfeld, P J ^a   Hirose, T ^a   Berson, E L ^a   Dryja, T P ^a  

^a MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABCR GENE; ARTICLE; DISEASE ASSOCIATION; GENE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PRIORITY JOURNAL; RETINA CONE; RETINA DEGENERATION; RETINA ROD; SEGREGATION ANALYSIS; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; STARGARDT DISEASE;

ALLELES; ATP-BINDING CASSETTE TRANSPORTERS; FEMALE; HUMANS; MACULAR DEGENERATION; MALE; MUTATION; PEDIGREE; PHOTORECEPTORS, VERTEBRATE; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RETINAL DEGENERATION; SEQUENCE ANALYSIS, DNA;

EID: 0034854473     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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