Molecular Analysis in Factor XIII_A Deficiency

• References

• 1 Kamura T, Okamura T, Murakawa M, Tsuda H, Teshima T, Shibuya T, Harada M, Niho Y. Deficiency of coagulation factor XIII_Asubunit caused by the dinucleotide deletion at the 5’ end of exon III. J Clin Invest 1992; 90: 315-319
• 2 Board P, Coggan M, Miloszewski K. Identification of a point mutation in factor XIII_Asubunit deficiency. Blood 1992; 80: 937-941
• 3 Standen GR, Bowen DJ. Factor XIII_ABristol 1: detection of a nonsense mutation (Arg¹⁷¹→stop codon) in factor XIII_Asubunit deficiency. Brit J Haematol 1993; 85: 769-772
• 4 Mikkola H, Syrjala M, Rasi V, Vahtera E, Hamalainen E, Peltonen L, Palotie A. Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels. Blood 1994; 84: 517-525