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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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Bibliografski detalji
Izdano u:Genet Res Int
Glavni autori: Arunachal, Gautham, Pachat, Divya, Doss, C. George Priya, Danda, Sumita, Pai, Rekha, Ebenazer, Andrew
Format: Artigo
Jezik:Inglês
Izdano: Hindawi Publishing Corporation 2016
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Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4812357/
https://ncbi.nlm.nih.gov/pubmed/27069690
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2016/9872594
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