Literature DB >> 1053859

Lyonization in hemophilia: a cause of error in direct detection of heterozygous carriers.

J B Graham, E S Barrow, R C Elston.   

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Year:  1975        PMID： 1053859     DOI： 10.1111/j.1749-6632.1975.tb53335.x

Source DB:  PubMed          Journal:  Ann N Y Acad Sci        ISSN： 0077-8923            Impact factor:   5.691


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  8 in total

1.  Properdin deficiency in a large Swiss family: identification of a stop codon in the properdin gene, and association of meningococcal disease with lack of the IgG2 allotype marker G2m(n).

Authors:  P J Späth; A G Sjöholm; G N Fredrikson; G Misiano; R Scherz; U B Schaad; B Uhring-Lambert; G Hauptmann; J Westberg; M Uhlén; C Wadelius; L Truedsson
Journal:  Clin Exp Immunol       Date:  1999-11       Impact factor: 4.330

2.  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

3.  Women and girls with haemophilia receiving care at specialized haemophilia treatment centres in the United States.

Authors:  Connie H Miller; J Michael Soucie; Vanessa R Byams; Amanda B Payne; Robert F Sidonio; Tyler W Buckner; Christopher J Bean
Journal:  Haemophilia       Date:  2021-09-04       Impact factor: 4.263

4.  Studies on hemophilia A in Sardinia bearing on the problems of multiple allelism, carrier detection, and differential mutation rate in the two sexes.

Authors:  G Filippi; P M Mannucci; R Coppola; A Farris; A Rinaldi; M Siniscalco
Journal:  Am J Hum Genet       Date:  1984-01       Impact factor: 11.025

5.  Expression of properdin in complete and incomplete deficiency: normal in vitro synthesis by monocytes in two cases with properdin deficiency type II due to distinct mutations.

Authors:  G N Fredrikson; B Gullstrand; J Westberg; A G Sjöholm; M Uhlén; L Truedsson
Journal:  J Clin Immunol       Date:  1998-07       Impact factor: 8.317

6.  The phenotypic range of hemophilia A carriers.

Authors:  J B Graham; C H Miller; H M Reisner; R C Elston; J A Olive
Journal:  Am J Hum Genet       Date:  1976-09       Impact factor: 11.025

7.  Haemophilia A: carrier detection by DNA analysis.

Authors:  R Schwaab; J Oldenburg; M Higuchi; M Ludwig; L Kochhan; J Horst; H H Brackmann; H Egli; K Olek
Journal:  Blut       Date:  1988-08

8.  Duchenne type muscular dystrophy and consanguinity: difficulties in pedigree analysis.

Authors:  S Aymé; J F Pelissier; J M Garnier; J F Mattei; F Giraud
Journal:  J Med Genet       Date:  1979-10       Impact factor: 6.318
  8 in total

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