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Introduction of oculopharyngeal miodystrophy DNA-diagnostics in practice of medical-genetic consultation of Republic Sakha (Yakutia)

Abstract

In practice of medical-genetic consultation of Republic Sakha (Yakutia) the way of diagnostics of oculopharyngeal miodystrophy by means of molecular-genetic research of a mutation in PABN1 gene is introduced. The given method is fast in execution, cheap and exact.

About the Authors

H. A. Kurtanov
ЯНЦ СО РАМН
Russian Federation


N. R. Maksimova
ЯНЦ СО РАМН
Russian Federation


S. K. Stepanova
РБ №1- НЦМ
Russian Federation


A. L. Suhomjasova
РБ №1-НЦМ
Russian Federation


References

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Review

For citations:


Kurtanov H.A., Maksimova N.R., Stepanova S.K., Suhomjasova A.L. Introduction of oculopharyngeal miodystrophy DNA-diagnostics in practice of medical-genetic consultation of Republic Sakha (Yakutia). Yakut Medical Journal. 2008;(4):43-46. (In Russ.)

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ISSN 1813-1905 (Print)
ISSN 2312-1017 (Online)