| Phenotype: | Factor XIIIA deficiency |
|---|---|
| Dna Change: | c.869_870insC (c.869insC) |
| Protein Change: | p.Ser291IlefsX8 |
| Mutation Type: | Insertion |
| Mutation Effect: | Frameshift |
| Location: | exon 7 |
| Transcript: | NM_000129.3 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Tunisia | NA | NA | 8 patients/9 patients (from 8 families) | NA | Louhichi N et al., 2010Louhichi N, Medhaffar M, Hadjsalem I, Mkaouar-Rebai E, Fendri-Kriaa N, Kanoun H, Yaïch F, Souissi T, Elloumi M, Fakhfakh F, . Congenital factor XIII deficiency caused by two mutations in eight Tunisian families: molecular confirmation of a founder effect.. Ann. Hematol.. 2010; 89(5):499-504 |
| Tunisia | NA | Southern and Northern | 13 patients/ 10 families | NA | El Mahmoudi H et al., 2009El Mahmoudi H, Amor MB, Gouider E, Horchani R, Hafsia R, Fadhlaoui K, Meddeb B, Hafsia A, Ammar El Gaaied AB, . Small insertion (c.869insC) within F13A gene is dominant in Tunisian patients with inherited FXIII deficiency due to ancient founder effect.. Haemophilia. 2009; 15(5):1176-9 |
El Mahmoudi H, Amor MB, Gouider E, Horchani R, Hafsia R, Fadhlaoui K, Meddeb B, Hafsia A, Ammar El Gaaied AB, Small insertion (c.869insC) within F13A gene is dominant in Tunisian patients with inherited FXIII deficiency due to ancient founder effect.Haemophilia. 2009; 15(5):1176-9
Louhichi N, Medhaffar M, Hadjsalem I, Mkaouar-Rebai E, Fendri-Kriaa N, Kanoun H, Yaïch F, Souissi T, Elloumi M, Fakhfakh F, Congenital factor XIII deficiency caused by two mutations in eight Tunisian families: molecular confirmation of a founder effect.Ann. Hematol.. 2010; 89(5):499-504