The novel αB‐crystallin ( CRYAB ) mutation p.D109G causes restrictive cardiomyopathy-Reference-Cited by-同舟云学术

The novel αB‐crystallin ( CRYAB ) mutation p.D109G causes restrictive cardiomyopathy

Published:2017-06-21 Issue:8 Volume:38 Page:947-952
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Brodehl Andreas¹^ORCID,Gaertner‐Rommel Anna¹,Klauke Bärbel¹,Grewe Simon Andre¹,Schirmer Ilona¹,Peterschröder Andreas²,Faber Lothar³,Vorgerd Matthias⁴,Gummert Jan¹,Anselmetti Dario⁵,Schulz Uwe¹,Paluszkiewicz Lech¹,Milting Hendrik¹

Affiliation:

1. Department of Thoracic and Cardiovascular SurgeryHeart and Diabetes Centre NRWUniversity Hospital of the Ruhr‐University BochumErich and Hanna Klessmann Institute for Cardiovascular Research & Development (EHKI) Bad Oeynhausen Germany

2. Department of Thoracic and Cardiovascular SurgeryHeart and Diabetes Centre NRWUniversity Hospital of the Ruhr‐University BochumInstitute of RadiologyNuclear Medicine and Molecular Imaging Bad Oeynhausen Germany

3. Department of Thoracic and Cardiovascular Surgery, Heart and Diabetes Centre NRW, University Hospital of the Ruhr‐University BochumClinic of Cardiology Bad Oeynhausen Germany

4. Department of NeurologyBG‐University Hospital Bergmannsheil Bochum Germany

5. Bielefeld University and Bielefeld Institute for Nanoscience (BINAS)Faculty of Physics, Experimental Biophysics and Applied Nanoscience Bielefeld Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23248

Reference42 articles.

1. Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects

2. Crystal Structures of α-Crystallin Domain Dimers of αB-Crystallin and Hsp20

3. Mutations in ABCC6 cause pseudoxanthoma elasticum