Biallelic mutation of Protocadherin-21 (PCDH21) causes retinal degeneration in humans

PURPOSE: To describe the clinical findings and mutations in affected members of two families with an autosomal recessive retinal dystrophy associated with mutations in the protocadherin-21 (PCDH21) gene. METHODS: A full genome scan of members of two consanguineous families segregating an autosomal r...

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Detalles Bibliográficos
Autores principales: Henderson, Robert H., Li, Zheng, El Aziz, Mai M. Abd, Mackay, Donna S., Eljinini, Mohammad A., Zeidan, Marwan, Moore, Anthony T., Bhattacharya, Shomi S., Webster, Andrew R.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2806159/
https://www.ncbi.nlm.nih.gov/pubmed/20087419

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2806159/
https://www.ncbi.nlm.nih.gov/pubmed/20087419

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