Molecular Characterization of a Novel Germline VHL Mutation by Extensive In Silico Analysis in an Indian Family with Von Hippel-Lindau Disease

Von Hippel-Lindau [VHL] disease, an autosomal dominant hereditary cancer syndrome, is well known for its complex genotype-phenotype correlations. We looked for germline mutations in the VHL gene in an affected multiplex family with Type 1 VHL disease. Real-Time quantitative PCR for deletions and San...

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Detalles Bibliográficos
Autores principales: Arunachal, Gautham, Pachat, Divya, Doss, C. George Priya, Danda, Sumita, Pai, Rekha, Ebenazer, Andrew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4812357/
https://www.ncbi.nlm.nih.gov/pubmed/27069690
http://dx.doi.org/10.1155/2016/9872594

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