Blood. 1995 Mar 15;85(6):1509-16.

Six point mutations that cause factor XI deficiency.

Pugh RE, McVey JH, Tuddenham EG, Hancock JF.

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Department of Academic Haematology, Royal Free Hospital Medical School, London, UK.

Abstract

We have identified six novel types of mutation that cause factor XI deficiency, an inherited bleeding disorder. Two are point mutations that interfere with the normal splicing of exons in the mRNA and four are point mutations that result in amino acid substitutions. One of these amino acid substitutions (Asp 16-->His) is near the amino terminal end of the protein. The other three amino acid substitutions (Leu 302-->Pro, Thr 304-->Ile, and Glu 323-->Lys) are in the fourth apple domain, a region that mediates dimerization of identical subunits of factor XI. All four amino acid substitutions cause a reduction in the amount of factor XI secreted from cells grown in vitro.

PMID:: 7888672; [PubMed - indexed for MEDLINE]

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Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations. [Proc Natl Acad Sci U S A. 1989]
Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations.
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Cited by 1 PubMed Central article

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Molecular cloning and biochemical characterization of rabbit factor XI.
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