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Article

A novel splice site mutation in the tissue inhibitor of the metalloproteinases-3 gene in Sorsby's fundus dystrophy with unusual clinical features.

Human genetics - 1 Aug 1998

Tabata Y, Isashiki Y, Kamimura K, Nakao K, Ohba N

Abstract excerpt

Sorsby's fundus dystrophy (SFD) is an autosomal dominant macular dystrophy which is developed usually in the third or fourth decade of life, and is characterized by central visual loss and nyctalopia due to fundus changes of exudative or atrophic macular lesions. Its functional prognosis is usual...

Topics

Aged
Aged, 80 and over
Binding Sites
Exons
Female
Humans
Introns
Macular Degeneration
Male
Mutation
Nucleic Acid Heteroduplexes
Pedigree
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Single-Stranded Conformational

RNA Splicing

Tissue Inhibitor of Metalloproteinase-3

Source

Identifiers

PMID: 9760202
DOI: 10.1007/pl00008707

Genes

TIMP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9760202-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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