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.
ARTICLES| March 15, 1995
Six point mutations that cause factor XI deficiency
Blood (1995) 85 (6): 1509-1516.
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RE Pugh, JH McVey, EG Tuddenham, JF Hancock; Six point mutations that cause factor XI deficiency. Blood 1995; 85 (6): 1509–1516. doi: https://doi.org/10.1182/blood.V85.6.1509.bloodjournal8561509
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