Literature DB >> 73739

The sporadic case of haemophilia A.

R Biggs, C R Rizza.   

Abstract

Plasma samples from 41 mothers of haemophilic sons in "simplex families" (families with only one affected member) have been tested for factor VIII and factor-VIII-related antigen. The results suggest that 39 of these women are likely to be carriers of haemophilia.

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Year:  1976        PMID： 73739     DOI： 10.1016/s0140-6736(76)92523-x

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


  17 in total

1.  Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysis.

Authors:  A H Bröcker-Vriends; F R Rosendaal; J C van Houwelingen; E Bakker; G J van Ommen; J J van de Kamp; E Briët
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

2.  Genetic epidemiology of Lesch-Nyhan disease.

Authors:  N E Morton; J M Lalouel
Journal:  Am J Hum Genet       Date:  1977-05       Impact factor: 11.025

3.  A probable sex difference in some mutation rates.

Authors:  F Vogel
Journal:  Am J Hum Genet       Date:  1977-05       Impact factor: 11.025

4.  Classical haemophilia in a girl.

Authors:  A Dvilansky; I Nathan; A Eldor
Journal:  Blut       Date:  1979-01-22

Review 5.  Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.

Authors:  H Moser
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

6.  Genetic counselling in haemophilia by discriminant analysis 1975-1980.

Authors:  E S Barrow; C H Miller; H M Reisner; J B Graham
Journal:  J Med Genet       Date:  1982-02       Impact factor: 6.318

7.  Duchenne muscular dystrophy: data from family studies.

Authors:  G A Danieli; M L Mostacciuolo; G Pilotto; C Angelini; A Bonfante
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

8.  Effect of reproductive compensation and the desire to have male offspring on the incidence of a sex-linked lethal disease.

Authors:  A R Templeton; S Yokoyama
Journal:  Am J Hum Genet       Date:  1980-07       Impact factor: 11.025

9.  Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.

Authors:  J Becker; R Schwaab; A Möller-Taube; U Schwaab; W Schmidt; H H Brackmann; T Grimm; K Olek; J Oldenburg
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

10.  RFLP analysis in families with sporadic hemophilia A. Estimate of the mutation ratio in male and female gametes.

Authors:  F Bernardi; G Marchetti; V Bertagnolo; L Faggioli; S Volinia; P Patracchini; S Bartolai; F Vannini; L Felloni; L Rossi
Journal:  Hum Genet       Date:  1987-07       Impact factor: 4.132
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