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Article

Severe factor XI deficiency caused by compound heterozygosity for the type III mutation and a novel insertion in exon 9 (codons 324/325 +G).

British journal of haematology - 1 Sept 2001

Dossenbach-Glaninger A, Krugluger W, Schrattbauer K, Eder S, Hopmeier P

Abstract excerpt

We investigated a 42-year-old Caucasian woman with severe factor XI deficiency and her family members. Restriction enzyme analysis and DNA sequencing revealed compound heterozygosity in the patient for the known type III mutation, which is a Phe283Leu amino acid substitution in the fourth apple domain causing impaired dimerization and secretion, and for a novel frameshift mutation in exon 9 (codons 324/325 +G),...

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PMID: 11564078
DOI: 10.1046/j.1365-2141.2001.03017.x

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