Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.

Recently, CD40L has been identified as the gene responsible for X chromosome-linked hyper-IgM syndrome (HIGM1). CD40L on activated T cells from HIGM1 patients fails to bind B-cell CD40 molecules, and subsequent analysis of CD40L transcripts by reverse transcription PCR demonstrated coding region mut...

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Publié dans:	Proc Natl Acad Sci U S A
Auteurs principaux:	Villa, A, Notarangelo, L D, Di Santo, J P, Macchi, P P, Strina, D, Frattini, A, Lucchini, F, Patrosso, C M, Giliani, S, Mantuano, E
Format:	Artigo
Langue:	Inglês
Publié:	National Academy of Sciences 1994
Sujets:	Research Article
Accès en ligne:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC43319/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7907793/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.91.6.2110
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