Sorsby fundus dystrophy without a mutation in the TIMP-3 gene

AIMS—To examine a large family with an autosomal dominant fundus dystrophy and to investigate whether or not mutations in TIMP-3 gene were involved.
METHODS—A large family of 58 individuals with an autosomal dominant fundus dystrophy was examined ophthalmologically. A DNA linkage analysis in the 22q...

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Bibliografski detalji
Glavni autori: Assink, J., de Backer, E., ten, B, Kohno, T., de Jong, P. T V M, Bergen, A., Meire, F.
Format: Artigo
Jezik:Inglês
Izdano: 2000
Teme:
Original articles - Clinical science
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1723563/
https://ncbi.nlm.nih.gov/pubmed/10873973
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.84.7.682
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