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Identification of a new mutation (Gly420Ser), distal to the active site, that leads to factor XIII deficiency

Kangsadalampai, Sasichai; Yenchitsomanus, Pathai; Chelvanayagam, Gareth; Sawasdee, Nunghathai; Laosombat, Vichai; Board, Philip

Description

The molecular defects of the factor XIII A subunit gene were studied in a patient with factor XIII deficiency. Mutation analysis was performed on amplified DNA from each exon of this gene by single-strand conformation polymorphism (SSCP) and DNA sequencing techniques. A substitution of guanine by adenine at nucleotide 1258 in exon 10 of the coagulation factor XIII A subunit gene has been identified in the patient. The mutation results in the replacement of Gly420 by Ser in the core domain of...[Show more]

CollectionsANU Research Publications
Date published: 2000
Type: Journal article
URI: http://hdl.handle.net/1885/89056
Source: European Journal of Haematology
DOI: 10.1034/j.1600-0609.2000.065004279.x

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