Six point mutations that cause factor XI deficiency.

Pugh, RE, McVey, JH, Tuddenham, EG and Hancock, JF (1995) Six point mutations that cause factor XI deficiency. Blood, 85 (6). pp. 1509-1516.

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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.

Item Type:	Article
Authors :	Name Email ORCID Pugh, RE McVey, JH j.mcvey@surrey.ac.uk Tuddenham, EG Hancock, JF
Date :	15 March 1995
Uncontrolled Keywords :	Amino Acid Sequence, Base Sequence, Cells, Cultured, Factor XI, Factor XI Deficiency, Humans, Molecular Sequence Data, Point Mutation
Related URLs :	Author
Depositing User :	Symplectic Elements
Date Deposited :	17 May 2017 10:16
Last Modified :	17 May 2017 14:48
URI:	http://epubs.surrey.ac.uk/id/eprint/827088

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