Ontology highlight
ABSTRACT:
SUBMITTER: Okumura N
PROVIDER: S-EPMC6554040 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Okumura Naoki N Hayashi Ryousuke R Nakano Masakazu M Tashiro Kei K Yoshii Kengo K Aleff Ross R Butz Malinda M Highsmith Edward W EW Wieben Eric D ED Fautsch Michael P MP Baratz Keith H KH Komori Yuya Y Ueda Emi E Nakahara Makiko M Weller Julia J Tourtas Theofilos T Schlötzer-Schrehardt Ursula U Kruse Friedrich F Koizumi Noriko N
Cornea 20190701 7
<h4>Purpose</h4>To investigate single nucleotide polymorphisms (SNPs) and trinucleotide repeat (TNR) expansion in the transcription factor 4 (TCF4) gene in a large cohort of German patients with Fuchs endothelial corneal dystrophy (FECD).<h4>Methods</h4>Genomic DNA was obtained from 398 patients with FECD and from 58 non-FECD controls. Thirty-seven previously reported SNPs were evaluated by genotyping. The 398 FECD samples were analyzed for TNR expansions by short tandem repeat assays and Southe ...[more]