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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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Detalles Bibliográficos
Autores principales: Cho, Hyun-Jung, Ki, Chang-Seok, Kim, Jong-Won
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2650969/
https://www.ncbi.nlm.nih.gov/pubmed/19270817
http://dx.doi.org/10.3346/jkms.2009.24.1.77