A novel germline mutation of the VHL gene in a Greek family with Von Hippel–Lindau disease

Von Hippel–Lindau disease (VHL) is an autosomal dominant disorder, caused by mutations of the VHL gene showing a strong genotype–phenotype correlation. The present report concerns a 16-year-old girl with VHL (retinal, spinal cord and cerebellar haemangioblastomas and pancreatic cysts), her father (r...

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Asıl Yazarlar: Peppa, Melpomeni, Kamakari, Smaragda, Boutati, Eleni, Nikolopoulos, Panagiotis, Giatzakis, Christoforos, Economopoulos, Theofanis, Hadjidakis, Dimitrios, Raptis, Sotirios A
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMJ Publishing Group 2009
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3029452/
https://ncbi.nlm.nih.gov/pubmed/21853002
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.02.2009.1574
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