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Article

Two Novel CHN1 Mutations in 2 Families With Duane Retraction Syndrome

9 May 2011

Abstract excerpt

OBJECTIVE: To determine the genetic cause of Duane retraction syndrome (DRS) in 2 families segregating DRS as a dominant trait. METHODS: Members of 2 unrelated pedigrees were enrolled in a genetic study. Linkage analysis was performed on the CHN1 locus. Probands and family members were screened for CHN1 mutations. RESULTS: The 6 affected individuals in the 2 pedigrees have DRS. Both pedigrees are consistent with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 21555619
DOI: 10.1001/archophthalmol.2011.84

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