Factor XIIIA Calgary: a candidate missense mutation (Leu667Pro) in the beta barrel 2 domain of the factor XIIIA subunit.

doi:10.1111/j.1365-2141.1995.tb05321.x

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Article

Factor XIIIA Calgary: a candidate missense mutation (Leu667Pro) in the beta barrel 2 domain of the factor XIIIA subunit.

British journal of haematology - 1 Oct 1995

Aslam S, Poon M C, Yee V C, Bowen D J, Standen G R

Abstract excerpt

Molecular analysis performed on a Canadian family with congenital factor XIII deficiency revealed a homozygous missense mutation (Leu667Pro) in exon 14 of the A subunit gene in three affected siblings. The mutation results from a T-to-C transition at nucleotide position 2087 and generates a new M...

Topics

Factor VIIIa
Female
Hemophilia A
Homozygote
Humans
Male
Mutation
Pedigree

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