The relationship between congenital hypertrophy of the retinal pigment epithelium (CHRPE) and germline mutations in the adenomatous polyposis coli (APC) gene

Ophthalmic Genetics

Volumn 20, Issue 1, 1999, Pages 53-56

  Ziskind, A ^a   Kotze, M J ^a   Grobbelaar, J J ^a  

^a UNIVERSITY OF STELLENBOSCH   (South Africa)

Author keywords

Adenomatous polyposis gene; CHRPE; Gardner syndrome; Mutation analysis; Polyposis; Retinal pigment epithelium; South Africa

Indexed keywords

ARTICLE; COLON POLYPOSIS; DISEASE ASSOCIATION; GENE MUTATION; HUMAN; HYPERTROPHY; MAJOR CLINICAL STUDY; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA DISEASE;

EID: 0032787952     PISSN: 01676784     EISSN: None     Source Type: Journal    
DOI: 10.1076/opge.20.1.53.2295     Document Type: Article

References (9)

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8. Grobbelaar JJ, Ziskind A, de Jong G, Oosthuizen CJJ, Kotze MJ. A novel deletion at codon 441 of the APC gene associated with ophthalmic lesions (CHRPE) in a South African family. J Med Genet 1996;33:348-386.
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