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[Polymorphism MI detected through the enzyme MspI in the study of congenital protein C deficiency].

Medicina clinica - 21 Nov 1992

Soria J M, Ibáñez I, Fontcuberta J, Borrell M, Estivill X, Sala N

Abstract excerpt

BACKGROUND: In order to find alternatives for the diagnosis of hereditary protein C (PC) deficiency, we have studied the diagnostic informativity of the restriction fragment length polymorphism (RFLP) MI, located 7 kb upstream of the PC gene and detected with the restriction enzyme MspI. METHODS: The RFLP MI has been analysed in 77 individuals belonging to 27 families with congenital PC deficiency, as well as in...

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PMID: 1280311

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