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Article

Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency.

Clinical immunology (Orlando, Fla.) - 1 Jul 2008

Strauss Kevin A, Puffenberger Erik G, Bunin Nancy, Rider Nicholas L, Morton Mary C, Eastman James T, Morton D Holmes

Abstract excerpt

Amish and Mennonite children with severe combined immune deficiency (SCID) often die without treatment as a result of delayed diagnoses and prohibitive costs of therapy. In this detailed case report, we describe the novel use of DNA microarrays to improve the diagnosis and management of an Amish infant with SCID. Using 10,000 single nucleotide polymorphism (SNP) genotypes from the patient, her parents, and seven...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18442948
DOI: 10.1016/j.clim.2008.02.016

Genes

ABO
RAG1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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