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X-linked agammaglobulinaemia. Mutation A1246G (R372G)

✍ Scribed by I. Barón Ruiz; M.A. Martín Mateos; A.M. Plaza Martín; M.T. Giner Muñoz; M. Piquer; O. Domínguez


Book ID
116203599
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
78 KB
Volume
38
Category
Article
ISSN
0301-0546

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Early diagnosis in X-linked agammaglobul
✍ R. K. B. Schuurman; E. J. B. M. Mensink; L. A. Sandkuyl; E. D. M. Post; H. Velze 📂 Article 📅 1988 🏛 Springer 🌐 English ⚖ 328 KB

The genetic transmission of X-linked agammaglobulinaemia (XLA) can be determined with high probability using closely linked DNA restriction fragment length polymorphisms (RFLP's). In a family known to be at risk for XLA in male offspring, RFLP analysis demonstrated that the mother was an XLA carrier