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Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms

PURPOSE: The aim of the study was to resolve the genetic etiology in families having inherited cataracts. METHODS: Families afflicted with congenital/childhood cataracts were registered in Chennai and Orissa (India). Blood samples were collected from the probands and available family members. Select...

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Detalles Bibliográficos
Autores principales: Santhiya, Sathiyavedu T., Kumar, Ganesan Senthil, Sudhakar, Pridhvi, Gupta, Navnit, Klopp, Norman, Illig, Thomas, Söker, Torben, Groth, Marco, Platzer, Matthias, Gopinath, Puthiya M., Graw, Jochen
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2956670/
https://www.ncbi.nlm.nih.gov/pubmed/21031021