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pro vyhledávání: '"H N, Parrott"'
Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene
Publikováno v:
American Journal of Medical Genetics. 87:163-167
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 se
Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene
Publikováno v:
American journal of medical genetics. 87(2)
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 se