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Genotype/phenotype correlations in Gaucher's disease

✍ Scribed by PramodK. Mistry


Book ID
118558708
Publisher
The Lancet
Year
1995
Tongue
English
Weight
333 KB
Volume
346
Category
Article
ISSN
0140-6736

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Communicated by David N. Cooper von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome resulting from mutations in the VHL tumor suppressor gene. VHL disease displays marked variation in expression and the presence of pheochromocytoma has been linked to missense VHL mutat