Stargardt macular dystrophy: Common ABCA4 mutations in South Africa-establishment of a rapid genetic test and relating risk to patients

Molecular Vision

Volumn 18, Issue , 2012, Pages 280-289

  Roberts, Lisa J ^a   Nossek, Christel A ^a   Greenberg, L Jacquie ^a   Ramesar, Rajkumar S ^a  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; CYSTEINE; GLYCINE; LEUCINE; PHENYLALANINE; TRYPTOPHAN; TYROSINE;

ABCA4 GENE; ARTICLE; BIOASSAY; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA DETERMINATION; DNA MICROARRAY; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SCREENING; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR DIAGNOSIS; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; MUTATOR GENE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SOUTH AFRICA; STARGARDT DISEASE;

ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; CASE-CONTROL STUDIES; CORNEAL DYSTROPHIES, HEREDITARY; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GENETIC TESTING; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; RISK FACTORS; SOUTH AFRICA;

EID: 84856911239     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (23)

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