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Article

Identification of X-linked severe combined immunodeficiency by mutation analysis of blood and hair roots.

British journal of haematology - 1 Jul 1999

Ting S S, Leigh D, Lindeman R, Ziegler J B

Abstract excerpt

Severe combined immunodeficiency is a heterogenous syndrome of varied genetic origins of which the X-linked type is the commonest (XSCID). The most sensitive method for diagnosis of XSCID in the absence of X-linked inheritance pattern is by mutation analysis. In this report we have performed mutation analysis in 13 unrelated boys transplanted (BMT) for SCID without a known cause to determine the frequency of...

Topics

DNA
Exons
Hair
Humans
Male
Mutation
Polymorphism, Single-Stranded Conformational
Receptors, Cytokine
Sequence Analysis
Severe Combined Immunodeficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 10444186
DOI: 10.1046/j.1365-2141.1999.01527.x

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