Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.

The Wiskott-Aldrich syndrome (WAS) is an X-chromosome-linked recessive disease characterized by eczema, thrombocytopenia, and immunodeficiency. The disease gene has been localized to the proximal short arm of the X chromosome and recently isolated through positional cloning. The function of the enco...

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Julkaisussa:	Proc Natl Acad Sci U S A
Päätekijät:	Kwan, S P, Hagemann, T L, Radtke, B E, Blaese, R M, Rosen, F S
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	National Academy of Sciences 1995
Aiheet:	Research Article
Linkit:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC42013/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7753869/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.92.10.4706
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