1994
DOI: 10.1182/blood.v84.2.517.bloodjournal842517
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Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels

Abstract: Congenital deficiency in coagulation factor XIII is a rare autosomal recessive bleeding disorder. Although the defect was characterized over 30 years ago, little is known about the molecular basis of the disorder. Here, we show two novel point mutations in the gene of the A- subunit of factor XIII in the genetically isolated population of Finland. All eight factor XIII-deficient families identified in Finland were studied. The exons of the gene of A-subunit were amplified individually by polymerase chain react… Show more

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Cited by 58 publications
(84 citation statements)
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“…These values are comparable to the data reported in the literature. 9,37 As shown in Table 1, 10.4% of the controls and 24.2% of the patients with familial thrombophilia carried the FV Leiden mutation in the heterozygous form. The high percentage of FV Leiden in the control group represents the high frequency of FV Purified plasma FXIII was activated by thrombin for 5 minutes at 37°C.…”
Section: Genetic Studies In Patients With Familial Thrombophilia and mentioning
confidence: 99%
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“…These values are comparable to the data reported in the literature. 9,37 As shown in Table 1, 10.4% of the controls and 24.2% of the patients with familial thrombophilia carried the FV Leiden mutation in the heterozygous form. The high percentage of FV Leiden in the control group represents the high frequency of FV Purified plasma FXIII was activated by thrombin for 5 minutes at 37°C.…”
Section: Genetic Studies In Patients With Familial Thrombophilia and mentioning
confidence: 99%
“…5,6 In addition to pathogenic mutations, a number of polymorphisms have been identified in the amino acid sequence of FXIII-A. [7][8][9][10] The biochemical effect of these polymorphisms has not been explored. One of them, a Val to Leu change, occurs at position 34 in the AP, just 3 amino acid residues away from the thrombin activation site (Arg37-Gly38).…”
Section: And Muszbek Et Al 2 )mentioning
confidence: 99%
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“…Mikkola and coworkers have also quantitated the mRNA levels by solid phase minisequencing, which fa cilitates allele-specific quantitation of mRNA levels. 20 ' 26 The quantity of mRNA is often reduced in nonsense mutations that result in premature termination of transla tion. This is probably due to altered stability or processing and nucleocytoplasmic transport of the mRNA (for a review, see Cooper 29 ).…”
Section: Fig 1 the Mutations That Have Been Reported In The Factor mentioning
confidence: 99%
“…Since then, more mutations have been identified providing a view of the molecular genetic background of the disease. So far, almost 20 different mutations have been reported in the gene of the catalytic A-subunit of factor XIII [15][16][17][18][19][20][21][22][23][24][25][26] (Fig. 1) and 3 mutations in the gene of the carrier protein B-subunit.…”
mentioning
confidence: 99%