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Article

The phenotype of arg555trp mutation in a large Turkish family with corneal granular dystrophy.

European journal of ophthalmology - 1 Jan 2000

Kiratli H, Irkeç M, Ozgül K, Ogüş A

Abstract excerpt

PURPOSE: A large Turkish family with 52 members, 26 of whom had Groenouw type 1 corneal granular dystrophy was evaluated by genetic linkage studies and mutation analyses. Phenotype-genotype correlations were also assessed. METHODS: DNA from peripheral blood lymphocytes of 22 family members was used in establishing linkage to chromosome 5q31. Single-strand conformation polymorphism analysis was done to detect...

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Share to Chromosomes, Human, Pair 5
Share to Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extracellular Matrix Proteins

Share to Mutation, Missense

Share to Neoplasm Proteins

Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 11820303
DOI: 10.1177/112067210101100403

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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