Discordant phenotype in siblings with X-linked agammaglobulinemia.

X-linked agammaglobulinemia (XLA) is a congenital humoral immunodeficiency caused by a defect in a B-cell-specific signaling molecule, Btk. There has been little concordance of phenotype with genotype in this disorder, and defects in Btk cause immunodeficiencies that range from mild impairment to co...

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Hlavní autoři: Bykowsky, M. J., Haire, R. N., Ohta, Y., Tang, H., Sung, S. S., Veksler, E. S., Greene, J. M., Fu, S. M., Litman, G. W., Sullivan, K. E.
Médium: Artigo
Jazyk:Inglês
Vydáno: 1996
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914566/
https://ncbi.nlm.nih.gov/pubmed/8644706
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