RFLP analysis in families with sporadic hemophilia A

  title={RFLP analysis in families with sporadic hemophilia A},
  author={Franca Bernardi and Giovanna Marchetti and Valeria Bertagnolo and Laura Faggioli and Stefano Volinia and P. Patracchini and S. Bartolai and Francesca Vannini and L. Felloni and Livia Rossi and F. Panicucci and Francesco Conconi},
  journal={Human Genetics},
To investigate the sporadic occurrence of hemophilia A and to estimate the sex ratio of mutation rates directly, 17 families with isolated cases of the disorder were studied by RFLP analysis and by clotting assays. Three RFLPs, one intragenic and two with close linkage to hemophilia A, were used. In eight families the RFLP study excluded the carrier status of the maternal grandmothers. Since hemostatic studies showed that the eight mothers of these propositi were hemophilia carriers, the origin… CONTINUE READING

From This Paper

Topics from this paper.


Publications citing this paper.
Showing 1-9 of 9 extracted citations


Publications referenced by this paper.
Showing 1-10 of 24 references

Haemophilia A: two

  • AE Lehesjoki, A De La Chapelle, V Rasi
  • 1986
2 Excerpts

Identification of a c-myc oncogene lacking the exon 1 in the normal cells of a patient carrying a thyroid carcinoma

  • L Del Senno, E Degti Uberti, +8 authors R Gambari
  • FEBS Lett
  • 1986
1 Excerpt

Similar Papers

Loading similar papers…