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Journal of Clinical Immunology

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01-04-2022 | Letter to Editor

A Pitfall of Whole Exome Sequencing: Variants in the 5′UTR Splice Site of BTK Causing XLA

Authors: Sanami Takada, Ingrid Pico-Knijnenburg, Malgorzata Pac, Adilia Warris, Mirjam van der Burg

Published in: Journal of Clinical Immunology | Issue 3/2022

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To the Editor, …

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El-Sayed ZA, Abramova I, Aldave JC, Al-Herz W, Bezrodnik L, Boukari R, et al. X-linked agammaglobulinemia (XLA): phenotype, diagnosis, and therapeutic challenges around the world. World Allergy Organ J. 2019;12(3):100018.CrossRefPubMedPubMedCentral

Noordzij JG, de Bruin-Versteeg S, Comans-Bitter WM, Hartwig NG, Hendriks RW, de Groot R, et al. Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children. Pediatr Res. 2002;51(2):159–68.CrossRefPubMed

Mignone F, Gissi C, Liuni S, Pesole G. Untranslated regions of mRNAs. Genome biology. 2002;3(3):Reviews0004.CrossRefPubMedPubMedCentral

Calvo SE, Pagliarini DJ, Mootha VK. Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans. Proc Natl Acad Sci. 2009;106:7507–12.CrossRefPubMedPubMedCentral

Fisher EMC, Barbosa C, Peixeiro I, Romão L. Gene expression regulation by upstream open reading frames and human disease. PLoS Genet. 2013;9(8):e1003529.CrossRef

Title: A Pitfall of Whole Exome Sequencing: Variants in the 5′UTR Splice Site of BTK Causing XLA
Authors: Sanami Takada
Ingrid Pico-Knijnenburg
Malgorzata Pac
Adilia Warris
Mirjam van der Burg
Publication date: 01-04-2022
Publisher: Springer US
Published in: Journal of Clinical Immunology / Issue 3/2022
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-021-01198-x

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A Pitfall of Whole Exome Sequencing: Variants in the 5′UTR Splice Site of BTK Causing XLA

Excerpt

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