angiomatosis/cysteine

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Molecular characterization and ophthalmic investigation of a large family with type 2A Von Hippel-Lindau Disease.

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BACKGROUND Von Hippel-Lindau (VHL) disease is a dominantly inherited cancer syndrome. Since the identification of the VHL gene, at least 3 clinical-genetic subtypes of the disease have been recognized. OBJECTIVE To identify the specific abnormality in the VHL gene and to correlate it with the

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