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Article

Molecular basis of fibrinogen Naples associated with defective thrombin binding and thrombophilia. Homozygous substitution of B beta 68 Ala----Thr.

The Journal of clinical investigation - 1 Jul 1992

Koopman J, Haverkate F, Lord S T, Grimbergen J, Mannucci P M

Abstract excerpt

In an abnormal fibrinogen (fibrinogen Naples) associated with congenital thrombophilia we have identified a single base substitution (G----A) in the B beta chain gene that results in an amino acid substitution of alanine by threonine at position 68 in the B beta chain of fibrinogen. The propositus and two siblings were found to be homozygous for the mutation, whereas the parents and another sibling were found to...

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Identifiers

PMID: 1634610
DOI: 10.1172/JCI115841
PMCID: PMC443086

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