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Article

Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2008

Lebet Tonya, Chiles Richard, Hsu Amy P, Mansfield Elaine S, Warrington Janet A, Puck Jennifer M

Abstract excerpt

PURPOSE: Mutation diagnosis of severe combined immunodeficiency is challenging because of the multiplicity of disease genes and large number of disease-causing mutations, including unique ones that continue to be found. A resequencing microarray could facilitate mutation detection, increasing the chance of diagnosing infants early for optimal rescue by hematopoietic stem cell transplantation. METHODS: After...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18641513
DOI: 10.1097/gim.0b013e31818063bc

Genes

JAK3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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