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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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Detalhes bibliográficos
Main Authors: Hollenbaugh, D, Wu, L H, Ochs, H D, Nonoyama, S, Grosmaire, L S, Ledbetter, J A, Noelle, R J, Hill, H, Aruffo, A
Formato: Artigo
Idioma:Inglês
Publicado em: 1994
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC296138/
https://ncbi.nlm.nih.gov/pubmed/7518839
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