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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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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Principais autores: Kwan, S P, Hagemann, T L, Radtke, B E, Blaese, R M, Rosen, F S
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 1995
Assuntos:
Acesso em linha: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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