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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...

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Publicat a:J Clin Invest
Autors principals: Hollenbaugh, D, Wu, L H, Ochs, H D, Nonoyama, S, Grosmaire, L S, Ledbetter, J A, Noelle, R J, Hill, H, Aruffo, A
Format: Artigo
Idioma:Inglês
Publicat: American Society for Clinical Investigation 1994
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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