Novel ACTN1 variants in cases of thrombocytopenia-Reference-Cited by-同舟云学术

Novel ACTN1 variants in cases of thrombocytopenia

Published:2019-11-06 Issue:12 Volume:40 Page:2258-2269
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Vincenot Anne¹^ORCID,Saultier Paul²^ORCID,Kunishima Shinji³^ORCID,Poggi Marjorie²^ORCID,Hurtaud‐Roux Marie‐Françoise¹,Roussel Alain⁴^ORCID,ACTN1 study coinvestigators ,Schlegel Nicole¹,Alessi Marie‐Christine²⁵^ORCID

Affiliation:

1. CHU Robert DebréNational Reference Center for Inherited Platelet Disorders and Biological Hematology Service, AP‐HP Paris France

2. Aix‐Marseille Univ, INSERM, INRA, C2VN Marseille France

3. Department of Medical TechnologyGifu University of Medical Science Seki Gifu Japan

4. Aix Marseille University, CNRS, AFMB Marseille France

5. APHM, CHU TimoneFrench Reference Center for Inherited Platelet Disorders Marseille France

Funder

Fondation pour la Recherche Médicale

Assistance Publique - Hôpitaux de Paris

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23840

Reference26 articles.

3. The first comprehensive and quantitative analysis of human platelet protein composition allows the comparative analysis of structural and functional pathways

4. Flexibility in the N-terminal actin-binding domain: Clues from in silico mutations and molecular dynamics

5. The spectrin repeat: a structural platform for cytoskeletal protein assemblies

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