A novel insertion mutation (1286insC) in exon 9 of the factor XIII-A subunit gene

Aslam, Shazia; Gr, Standen; Bruce, Lesley J.; Gialeraki, R; Mandalaki, T

doi:10.1097/00001721-199807000-00007

Cited by 6 publications

(2 citation statements)

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“…A similar homozygous single base insertion (1286 ins C) was previously described in three affected subjects of a Greek family (Aslam et al , 1998). This insertion leads to a premature translation stop signal in the homozygous state.…”

Section: Discussionsupporting

confidence: 63%

Mutations in coagulation factor XIII A gene in three Turkish patients: two novel mutations and a known insertion

Birben¹,

Öner²,

Öner³

et al. 2002

Br J Haematol

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Summary. Molecular analysis of factor XIII A gene on three unrelated Turkish families identified two novel and one known mutations. One novel mutation is a substitution of cytidine by guanine at codon 541 in exon 12, b barrel 1 domain of the coagulation factor XIII A subunit gene resulting in the conversion of asparagine to lysine. The mutation alters the restriction site of the enzyme MboII. The second novel mutation, a 4 bp (-CAAA) deletion located in a direct repetitive sequence (CAAACAAA) between codons 466-469, results in premature termination of translation at codon 474. The third mutation is a previously reported single nucleotide (cytidine) insertion at codon 400 in exon 9 of the factor XIII gene.

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