Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.

Article

Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.

American journal of human genetics - 1 May 1990

Arveiler B, de Saint-Basile G, Fischer A, Griscelli C, Mandel J L

Abstract excerpt

The Wiskott-Aldrich syndrome (IMD2) is an X-linked recessive immunodeficiency. Initial linkage studies mapped the disease locus on the proximal short arm of the X chromosome, a localization which was further refined to the interval framed by DXS7 and DXS14. We have recently shown that a novel hyp...

Topics

Blotting, Southern
DNA
Female
Genetic Linkage
Genetic Variation
Humans
Infant
Male
Molecular Weight
Mosaicism
Pedigree
Polymorphism, Restriction Fragment Length
Wiskott-Aldrich Syndrome
X Chromosome

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