De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy-Reference-Cited by-同舟云学术

De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy

Published:2018-06-17 Issue:9 Volume:39 Page:1161-1172
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Kiselev Artem¹^ORCID,Vaz Raquel²,Knyazeva Anastasia¹^ORCID,Khudiakov Aleksandr¹^ORCID,Tarnovskaya Svetlana¹³,Liu Jiao⁴,Sergushichev Alexey⁵,Kazakov Sergey⁵,Frishman Dmitrij³⁶^ORCID,Smolina Natalia¹⁵⁷^ORCID,Pervunina Tatiana¹,Jorholt John⁷,Sjoberg Gunnar⁷,Vershinina Tatiana¹,Rudenko Dmitriy⁸,Arner Anders⁴,Sejersen Thomas⁷,Lindstrand Anna²⁹^ORCID,Kostareva Anna¹⁷^ORCID

Affiliation:

1. Almazov National Medical Research Centre; Saint Petersburg Russia

2. Department of Molecular Medicine and Surgery and Center for molecular medicine; Karolinska Institutet; Stockholm Sweden

3. Peter the Great St.Petersburg Polytechnic University; Saint Petersburg Russia

4. Department of Physiology and Pharmacology; Karolinska Institutet; Stockholm Sweden

5. ITMO University; Saint Petersburg Russia

6. Department of Bioinformatics; Technische Universität München; Wissenschaftszentrum Weihenstephan; Freising Germany

7. Department of Women's and Children's Health and Center for Molecular Medicine; Karolinska Institute; Stockholm Sweden

8. City Hospital 2; Saint Petersburg Russia

9. Clinical Genetics; Karolinska University Laboratory; Karolinska University Hospital; Stockholm Sweden

Funder

Government of Russian Federation

American Liver Foundation

Russian Science Foundation

Svenska Sällskapet för Medicinsk Forskning

Vetenskapsrådet

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23559/fullpdf

Reference47 articles.

1. Basic local alignment search tool;Altschul;Journal of Molecular Biology,1990

2. FLNC gene splice mutations cause dilated cardiomyopathy;Begay;JACC: Basic to Translational Science,2016

3. The Protein Data Bank;Berman;Nucleic Acids Research,2000

4. Mutations in FLNC are associated with familial restrictive cardiomyopathy;Brodehl;Human Mutation,2016

5. The novel alphaB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy;Brodehl;Human Mutation,2017

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