Mutation spectrum and founder chromosomes for the ABCA4 gene in South African patients with Stargardt disease

Investigative Ophthalmology and Visual Science

Volumn 45, Issue 6, 2004, Pages 1705-1711

  September, Alison V ^a   Vorster, Anna A ^a   Ramesar, Rajkumar S ^a   Greenberg, L Jacquie ^a  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

ABCA4 GENE; ADULT; ARTICLE; CHROMOSOME; COHORT ANALYSIS; FEMALE; FOUNDER EFFECT; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIGENE FAMILY; POPULATION GENETICS; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTH AFRICA; STARGARDT DISEASE; ADOLESCENT; CHILD; EXON; GENETICS; HETERODUPLEX ANALYSIS; HUMAN CHROMOSOME; MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PEDIGREE; PRESCHOOL CHILD; RETINA MACULA DEGENERATION;

ABC TRANSPORTER; ABCA4 PROTEIN, HUMAN; MICROSATELLITE DNA;

ADOLESCENT; ADULT; AGE OF ONSET; ATP-BINDING CASSETTE TRANSPORTERS; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FOUNDER EFFECT; HAPLOTYPES; HETERODUPLEX ANALYSIS; HUMANS; MACULAR DEGENERATION; MALE; MICROSATELLITE REPEATS; MUTATION; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SOUTH AFRICA;

EID: 3042524074     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.03-1167     Document Type: Article

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