Transthyretin gene V30M, H90N, and (del9) mutations in cardiomyopathy patients from St. Petersburg

Transthyretin gene V30M, H90N, and (del9) mutations in cardiomyopathy patients from St. Petersburg A search of transthyretin (TTR) gene mutations was performed in patients with cardiomyopathies from St. Petersburg. Mutations H90N, V30M and deletion (del9) of nucleotides GACTTCTCC in position 6776 from the start codon of the TTR gene (in position 98782 according to reference sequence AC079096 (NCBI) was found. The H90N mutation in the third exon of TTR gene was detected in a son of a cardiomyopathy patient and in his mother, which lacked any clinical manifestations. Mutation V30M in exon 2 of TTR gene was found in heterozygous in one of the probands. Deletion (del9) was revealed in a patient with cardiomyopathy and in his two daughters from different marriages, who had no clinical manifestations of the disease. All the mutations revealed in this study were previously identified in other populations. Russian Journal of Genetics Springer Journals

Transthyretin gene V30M, H90N, and (del9) mutations in cardiomyopathy patients from St. Petersburg

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SP MAIK Nauka/Interperiodica
Copyright © 2011 by Pleiades Publishing, Ltd.
Biomedicine; Microbial Genetics and Genomics; Human Genetics ; Animal Genetics and Genomics
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