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Article

Mutational spectrum of Korean patients with corneal dystrophy.

Clinical genetics - 1 Jun 2016

Chae H, Kim M, Kim Y, Kim J, Kwon A, Choi H, Park J, Jang W, Lee Y S, Park S H, Kim M S

Abstract excerpt

Corneal dystrophy typically refers to a group of rare hereditary disorders with a heterogeneous genetic background. A comprehensive molecular genetic analysis was performed to characterize the genetic spectrum of corneal dystrophies in Korean patients. Patients with various corneal dystrophies underwent thorough ophthalmic examination, histopathologic examination, and Sanger sequencing. A total of 120 probands...

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Identifiers

PMID: 26748743
DOI: 10.1111/cge.12726

Genes

SCD
TGFBI

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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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