Uniparental Disomy of Chromosome 4: A Case of Whole Chromosome UPD Presenting with LRBA Deficiency
Uniparental Disomy of Chromosome 4: A Case of Whole Chromosome UPD Presenting with LRBA Deficiency
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Publisher
New York: Springer US
Journal title
Language
English
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Publisher
New York: Springer US
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Contents
Purpose
Lipopolysaccharide-responsive beige-like anchor protein (
LRBA
) encodes a widely expressed cytosolic protein that participates in polarized vesicle trafficking. Homozygous loss-of-function
LRBA
mutations can lead to immune deficiency due to the lack of immune regulation, classified as a part of Tregopathies. We present a cas...
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Full title
Uniparental Disomy of Chromosome 4: A Case of Whole Chromosome UPD Presenting with LRBA Deficiency
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TN_cdi_proquest_miscellaneous_3206205905
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3206205905
Other Identifiers
ISSN
0271-9142,1573-2592
E-ISSN
1573-2592
DOI
10.1007/s10875-024-01803-9
