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Article

Prenatal diagnosis of JAK3 deficient SCID.

Prenatal diagnosis - 1 Jul 1999

Schumacher R F, Mella P, Lalatta F, Fiorini M, Giliani S, Villa A, Candotti F, Notarangelo L D

Abstract excerpt

The JAK3 gene, encoding a tyrosine kinase functionally coupled to cytokine receptors which share the common gamma chain, has been identified as the defective gene for autosomal recessive severe combined immunodeficiency (SCID). Thus, specific mutational diagnosis has become possible. We screened all exons with a combined single strand conformational polymorphism and hetero-duplex formation assay followed by...

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Share to Protein-Tyrosine Kinases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10419614

Genes

JAK3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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