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...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Proc Natl Acad Sci U S A |
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| Prif Awduron: | , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
National Academy of Sciences
1995
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| Pynciau: | |
| Mynediad Ar-lein: | 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 |
| Tagiau: |
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