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LACK OF PHENOTYPIC DIFFERENCES BY CMRI IN THE TWO MOST COMMON SARCOMERE PROTEIN GENE MUTATIONS IN HYPERTROPHIC CARDIOMYOPATHY

โœ Scribed by Gruner, Christiane; Chan, Raymond; Appelbaum, Evan; Rowin, Ethan; Care, Melanie; Williams, Lynne; Gibson, Michael; Lesser, John; Haas, Tammy; Udelson, James; Manning, Warren; Tomberli, Benedetta; Olivotto, Iacopo; Maron, Barry; Crean, Andrew; Maron, Martin; Rakowski, Harry


Book ID
122914443
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
319 KB
Volume
61
Category
Article
ISSN
1558-3597

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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