Article
Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene.
American journal of medical genetics - 19 Nov 1999
Bradley J F, Collins D L, Schimke R N, Parrott H N, Rothberg P G
Abstract excerpt
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 digestion. The mutation cosegregated with the disease in all five tested affected individuals from the extended family....
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