Improved Detection of Germline Mutations in Korean VHL Patients by Multiple Ligation-dependent Probe Amplification Analysis

von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome characterized by the development of tumors in the eye, brain, spinal cord, inner ear, adrenal gland, pancreas, kidney, and epididymis, associated with germline mutations in the VHL gene. We used sequentially sequencing...

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Bibliographische Detailangaben
Hauptverfasser: Cho, Hyun-Jung, Ki, Chang-Seok, Kim, Jong-Won
Format: Artigo
Sprache:Inglês
Veröffentlicht: The Korean Academy of Medical Sciences 2009
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2650969/
https://ncbi.nlm.nih.gov/pubmed/19270817
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2009.24.1.77
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