A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.

Mutations in the gene for CD40 ligand are responsible for the X-linked form of hyper IgM syndrome. However, no clinical or laboratory findings that reliably distinguish X-linked disease from other forms of hyper IgM syndrome have been reported, nor are there tests available that can be used to confi...

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Bibliografiset tiedot
Julkaisussa:J Clin Invest
Päätekijät: Lin, Q, Rohrer, J, Allen, R C, Larché, M, Greene, J M, Shigeoka, A O, Gatti, R A, Derauf, D C, Belmont, J W, Conley, M E
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: American Society for Clinical Investigation 1996
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC507079/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8550833/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI118389
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