An ABCA4 genomic deletion in patients with Stargardt disease

Human Mutation

Volumn 21, Issue 6, 2003, Pages 636-644

  Yatsenko, Alexander N ^a   Shroyer, Noah F ^a   Lewis, Richard A ^a   Lupski, James R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

ABCA4; Genomic deletion; Genomic rearrangement; Mutation screening; Photoreceptor; Stargardt disease; STGD1

Indexed keywords

COMPLEMENTARY DNA; RNA;

ABCA4 GENE; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; GENE; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENOME; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; ONSET AGE; PHOTORECEPTOR; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA DYSTROPHY; STARGARDT DISEASE;

ALLELES; ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; BLOTTING, SOUTHERN; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DELETION; GENETIC SCREENING; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; RETINAL DISEASES;

EID: 0038210199     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10219     Document Type: Article

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