Ser80Ile mutation and a concurrent Pro25Leu variant of the <it>VHL </it>gene in an extended Hungarian von Hippel-Lindau family
<p>Abstract</p> <p>Von Hippel-Lindau disease (VHL) is a rare autosomal dominant disease characterized by development of cystic and tumorous lesions at multiple sites, including the brain, spinal cord, kidneys, adrenals, pancreas, epididymis and eyes. The clinical phenotype results...
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| Main Authors: | , , , , , , |
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| Format: | Book |
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BMC,
2008-04-01T00:00:00Z.
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