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A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy

PURPOSE: To identify the molecular defect in the UbiA prenyltransferase domain containing 1 (UBIAD1) gene in a four-generation Chinese family with Schnyder corneal dystrophy (SCD). METHODS: A four-generation Chinese family with SCD and 50 unrelated normal individuals as controls were enrolled in. Th...

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Detalhes bibliográficos
Main Authors: Du, Chunyu, Li, Ying, Dai, Lili, Gong, Lingmin, Han, Chengcheng
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3209473/
https://ncbi.nlm.nih.gov/pubmed/22065921
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