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Two novel CHN1 mutations in two families with Duane’s retraction syndrome

OBJECTIVE: To determine the genetic cause of Duane’s retraction syndrome (DRS) in two families segregating DRS as an autosomal dominant trait. METHOD: Members of two unrelated pedigrees were enrolled in an ongoing genetic study. Linkage analysis was performed using fluorescent microsatellite markers...

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Detalhes bibliográficos
Main Authors: Chan, Wai-Man, Miyake, Noriko, Zhu-Tam, Lily, Andrews, Caroline, Engle, Elizabeth C.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3517173/
https://ncbi.nlm.nih.gov/pubmed/21555619
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archophthalmol.2011.84
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