Novel hemizygous CORO1A variant leads to combined immunodeficiency with defective platelet calcium signaling and cell mobility-Reference-Cited by-同舟云学术

Novel hemizygous CORO1A variant leads to combined immunodeficiency with defective platelet calcium signaling and cell mobility

Published:2024-02 Issue:1 Volume:3 Page:100172
ISSN:2772-8293
Container-title:Journal of Allergy and Clinical Immunology: Global
language:en
Short-container-title:Journal of Allergy and Clinical Immunology: Global

Author:

Khoreva Anna^ORCID,Butov Kirill R.,Nikolaeva Elena I.,Martyanov Alexey,Kulakovskaya Elena,Pershin Dmitry,Alexenko Maxim,Kurnikova Maria,Abasov Ruslan,Raykina Elena,Abramov Dmitry,Arnaudova Kristina,Rodina Yulia,Trubina Natalia,Skvortsova Yulia,Balashov Dmitry,Sveshnikova Anastasia,Maschan Alexey,Novichkova Galina,Panteleev Mikhail,Shcherbina Anna

Publisher

Elsevier BV

Reference25 articles.

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2. Coronin 1A deficiency identified by newborn screening for severe combined immunodeficiency;Dinur Schejter;LymphoSign J,2019

3. Lytic immune synapse function requires filamentous actin deconstruction by coronin 1A;Mace;Proc Natl Acad Sci U S A,2014

4. The expanding spectrum of human coronin 1A deficiency;Moshous;Curr Allergy Asthma Rep,2014

5. Whole-exome sequencing identifies coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation;Moshous;J Allergy Clin Immunol,2013

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1. Understanding copy number variations through their genes: a molecular view on 16p11.2 deletion and duplication syndromes;Frontiers in Pharmacology;2024-06-14