Br J Haematol. 1989 Feb;71(2):271-6.

A recurrent missense mutation (Arg----Gln) and a partial deletion in factor VIII gene causing severe haemophilia A.

Bernardi F, Volinia S, Patracchini P, Gemmati D, Boninsegna S, Schwienbacher C, Marchetti G.

Source

Centro di Studi Biochimici sul Morbo di Cooley, Università di Ferrara, Italy.

Abstract

The presence of gene lesions in coagulation factor VIII (FVIII) gene was investigated in 70 Italian patients severely affected by haemophilia A. cDNA probes specific for exons 14-26 of the FVIII gene were used. In two related patients a gene deletion removes exon 26, a gene lesion similar to that described previously in a British haemophiliac. In exon 24 a C to T transition in the reverse complement strand causes a missense mutation in the coding strand (CGA----CAA, 2209 Arg----Gln). The mutation is located in a very conserved FVIII homology region and severely reduces FVIII activity. By restriction analysis and hybridizations with oligonucleotide probes this gene alteration was found in two unrelated haemophiliacs and in their relatives.

PMID:: 2493803; [PubMed - indexed for MEDLINE]

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Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent. [Blood. 1990]
Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent.
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Cited by 4 PubMed Central articles

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition. [Nucleic Acids Res. 1994]
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.
Tuddenham EG, Schwaab R, Seehafer J, Millar DS, Gitschier J, Higuchi M, Bidichandani S, Connor JM, Hoyer LW, Yoshioka A. Nucleic Acids Res. 1994 Nov 11; 22(22):4851-68.
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition. [Nucleic Acids Res. 1994]
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.
Tuddenham EG, Schwaab R, Seehafer J, Millar DS, Gitschier J, Higuchi M, Bidichandani S, Connor JM, Hoyer LW, Yoshioka A. Nucleic Acids Res. 1994 Sep; 22(17):3511-33.
Identical point mutations in the factor VIII gene that have different clinical manifestations of hemophilia A. [Am J Hum Genet. 1990]
Identical point mutations in the factor VIII gene that have different clinical manifestations of hemophilia A.
Schwaab R, Ludwig M, Oldenburg J, Brackmann HH, Egli H, Kochhan L, Olek K. Am J Hum Genet. 1990 Oct; 47(4):743-4.

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