Functional Confirmation of DNA Repair Defect in Ataxia Telangiectasia (AT) Infants Identified by Newborn Screening for Severe Combined Immunodeficiency (NBS SCID)-Reference-Cited by-同舟云学术

Functional Confirmation of DNA Repair Defect in Ataxia Telangiectasia (AT) Infants Identified by Newborn Screening for Severe Combined Immunodeficiency (NBS SCID)

Published:2021-02 Issue:2 Volume:9 Page:723-732.e3
ISSN:2213-2198
Container-title:The Journal of Allergy and Clinical Immunology: In Practice
language:en
Short-container-title:The Journal of Allergy and Clinical Immunology: In Practice

Author:

Barmettler Sara,Coffey Kara,Smith Matthew J.,Chong Hey Jin,Pozos Tamara C.,Seroogy Christine M.,Walter Jolan,Abraham Roshini S.

Publisher

Elsevier BV

Subject

Immunology and Allergy

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1. ATAXIA-telangiectasia with compound heterozygous ATM mutations discovered on abnormal newborn screen;Clinical Immunology;2024-08

2. Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023);International Journal of Neonatal Screening;2024-05-23

3. The natural history of ataxia-telangiectasia (A-T): A systematic review;PLOS ONE;2022-03-15

4. Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia–Telangiectasia;Frontiers in Genetics;2022-01-25

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