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Article

Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Oct 2008

Gruenauer-Kloevekorn Claudia, Braeutigam Saskia, Heinritz Wolfram, Froster Ursula G, Duncker Gernot I W

Abstract excerpt

INTRODUCTION: The objective of this study was to investigate genotype-phenotype correlations, the consequences for surgical treatment, and the therapeutical options in patients with macular corneal dystrophy (MCD). MATERIAL AND METHODS: We investigated MCD genotype by using polymerase chain reaction followed by direct sequencing in one family and four patients with MCD. Results were confirmed by restriction...

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Share to Corneal Dystrophies, Hereditary
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18500531
DOI: 10.1007/s00417-008-0836-1

Genes

CHST6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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