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The random inactivation of the X chromosome carrying the defective gene responsible for X-linked hyper IgM syndrome (X-HIM) in female carriers of HIGM1.
The molecular origin of X-linked hyper IgM syndrome has recently been identified as a defect in the ligand of CD40, gp39, a protein expressed on the surface of activated T cells. The availability of detailed pedigrees for three families with affected males allowed assessment of the random or nonrand...
Guardat en:
| Publicat a: | J Clin Invest |
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| Autors principals: | , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
American Society for Clinical Investigation
1994
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC296138/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7518839/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117377 |
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