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Differing hepatic lesions caused by the same dose of ultrasound

✍ Scribed by K. J. W. Taylor; C. C. Connolly


Publisher
John Wiley and Sons
Year
1969
Tongue
English
Weight
629 KB
Volume
98
Category
Article
ISSN
0022-3417

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Two distinct phenotypes caused by two di
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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