Ataxia Telangiectasia Diagnosed on Newborn Screening–Case Cohort of 5 Years' Experience-Reference-Cited by-同舟云学术

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Ataxia Telangiectasia Diagnosed on Newborn Screening–Case Cohort of 5 Years' Experience

Published:2019-12-20 Issue: Volume:10 Page:
ISSN:1664-3224
Container-title:Frontiers in Immunology
language:
Short-container-title:Front. Immunol.

Author:

Mandola Amarilla B.,Reid Brenda,Sirror Raga,Brager Rae,Dent Peter,Chakroborty Pranesh,Bulman Dennis E.,Roifman Chaim M.

Funder

Immunodeficiency Canada

Jeffrey Modell Foundation

Publisher

Frontiers Media SA

Subject

Immunology,Immunology and Allergy

Reference32 articles.

1. ATM and the molecular pathogenesis of ataxia telangiectasia;McKinnon;Ann Rev Pathol.,2012

2. Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions;Ambrose;Blood.,2013

3. Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia;Schon;Ann Neurol,2019

4. The European Society for Immunodeficiencies (ESID) registry working definitions for the clinical diagnosis of inborn errors of immunity;Seidel;J Aller Clin Immun,2019

5. ATM stabilizes DNA double-strand-break complexes during V(D)J recombination;Bredemeyer;Nature.,2006

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