Exome-based search for recurrent disease-causing alleles in Russian population-Reference-Cited by-同舟云学术

Exome-based search for recurrent disease-causing alleles in Russian population

Published:2019-07 Issue:7 Volume:62 Page:103656
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Yanus Grigoriy A.,Akhapkina Tatiana A.,Whitehead Aldon J.,Bizin Ilya V.,Iyevleva Aglaya G.,Kuligina Ekaterina Sh.,Aleksakhina Svetlana N.,Anisimova Maria O.,Holmatov Maxim M.,Romanko Alexandr A.,Zaitseva Olga A.,Yatsuk Olga S.,Zagorodnev Kirill A.,Matsneva Maria A.,Koloskov Andrey V.,Togo Alexandr V.,Suspitsin Evgeny N.,Imyanitov Evgeny N.

Funder

Russian Foundation for Basic Research

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference40 articles.

1. High carrier frequency of CFTR gene mutations associated with cystic fibrosis, and PAH gene mutations associated with phenylketonuria in Russian population;Abramov;Bulletin of RSMU,2015

2. Human male infertility caused by mutations in the CATSPER1 channel protein;Avenarius;Am. J. Hum. Genet.,2009

3. Frequency of the F508 deletion in cystic fibrosis patients from the European part of the USSR;Baranov;Hum. Genet.,1991

4. ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia;Birrell;Hum. Mutat.,2005

5. Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency;Böhm;Pediatr. Res.,2006

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