Detection of breaking points in helices linking separate domains

Detection of a novel mutation in the SRC

Detection of a novel mutation in the SRC homology domain 2 (SH2) of Bruton's tyrosine kinase and direct female carrier evaluation in a family with X-linked agammaglobulinemia

✍ Schuster, Volker; Seidenspinner, Silvia; Kreth, Hans Wolfgang 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 16 KB 👁 2 views

X-linked agammaglobulinemia (XLA) is an inherited immunodeficiency disease with a block in differentiation from pre-B to B cells resulting in a selective defect in the humoral immune response. Affected males have very low concentrations of serum immunoglobulins leading predominantly to recurrent bac