𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Germline mutations in the von Hippel-Lindau tumor suppressor gene and preclinical diagnosis of gene carriers

✍ Scribed by Hiltrud Brauch; O. Mašek; F. Pausch; M.I. Lerman; B. Zbar; H. Hf̈ler


Book ID
119106239
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
95 KB
Volume
77
Category
Article
ISSN
0165-4608

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Improved detection of germline mutations
✍ Catherine Stolle; Gladys Glenn; Berton Zbar; Jeffrey S. Humphrey; Peter Choyke; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 201 KB 👁 2 views

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

Somatic mutations of von Hippel-Lindau (
✍ Maryse Bailly; Christine Bain; Marie-C. Favrot; Mehmet Ozturk 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 French ⚖ 917 KB

Somatic mutations of von Hippel Lindau (VHL) tumorsuppressor gene have been identified in kidney cancers from North America and Japan. We studied VHL gene mutation in 3 I kidney tumors from France. Of these tumors, 45% (14/31) displayed mutations, 60% of which occurred at AT base pairs. The frequenc