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Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by southern blot and direct genomic DNA sequencing

✍ Scribed by Chunde Li; Günther Weber; Peter Ekman; Jacob Lagercrantz; Bo Johan Norlen; Göran Åkerström; Magnus Nordenskjöld; Dr. Ulf S. R. Bergerheim


Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
349 KB
Volume
11
Category
Article
ISSN
1059-7794

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Improved detection of germline mutations
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Communicated by Victor A. McKusick von Hippel-Lindau disease (VHL) is an inherited neoplastic disorder characterized by the development of tumors in the eyes, brain, spinal cord, inner ear, adrenal gland, pancreas, kidney, and epididymis. The VHL tumor suppressor gene was identified in 1993. Initial