The pattern of STK11 gene mutation and its phenotypical manifestation in patient with hamartomas polyposis
The clinical examination, genealogical and molecular genetic analysis of the probands and the risk group of three families with Peutz–Jeghers syndrome were carried out. The mutations of STK11 gene in exons 1, 2, 3 and 4, that lead to the formation of truncated protein and loss of its kinase activity...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
Львівський національний університет імені Івана Франка
2014-04-01
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Series: | Біологічні студії |
Subjects: | |
Online Access: | http://publications.lnu.edu.ua/journals/index.php/biology/article/view/152 |