Two distinct phenotypes caused by two di
Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene
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Bradley, John F.; Collins, Debra L.; Schimke, R. Neil; Parrott, Heather N.; Roth
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Article
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1999
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John Wiley and Sons
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English
β 22 KB
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We have identified a family segregating von Hippel-Lindau (VHL) disease with a previously unreported T547A mutation in exon 1 of the VHL gene that causes a Tyr112 to Asn missense alteration in the protein. The mutation was identified by nucleotide sequencing and confirmed by restriction enzyme diges