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Digitale Medien

Early diagnosis in X-linked agammaglobulinaemia (1988)

Schuurman, R. K. B. ; Mensink, E. J. B. M. ; Sandkuyl, L. A. ; [weitere]

Springer

European journal of pediatrics 147 (1988), S. 93-95

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Details

ISSN: 1432-1076

Schlagwort(e): X-linked agammaglobulinaemia ; Restriction fragment length polymorphism ; Early diagnosis ; Carrier detection

Quelle: Springer Online Journal Archives 1860-2000

Thema: Medizin

Notizen: Abstract 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 and her newborn son was affected. The infant developed immunological deficiencies a few months later, confirming the diagnosis. RFLP analysis provides a method for carrier detection, prenatal diagnosis and presymptomatic diagnosis of XLA, which plays a significant role in prevention of the disease.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1007/BF00442622

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