Literature DB >> 27004222

Determining the frequency of sporadic cases of rare X-linked disorders.

Alan Edmund Stark1.   

Abstract

This paper gives formulae for calculating the gene frequency, incidence and proportion of sporadic cases of rare X-linked recessive disorders, taking account of the possibility of early recognition of carriers and fitness of affected males.

Entities:  

Keywords:  Rare; X-linked; recessive

Year:  2016        PMID： 27004222      PMCID： PMC4779783          DOI： 10.3978/j.issn.2305-5839.2015.12.02

Source DB:  PubMed          Journal:  Ann Transl Med        ISSN： 2305-5839


  9 in total

1.  Mutation in the sex-linked recessive type of muscular dystrophy; a possible sex difference.

Authors:  J B HALDANE
Journal:  Ann Hum Genet       Date:  1956-05       Impact factor: 1.670

2.  The rate of spontaneous mutation of a human gene. 1935.

Authors:  J B S Haldane
Journal:  J Genet       Date:  2004-12       Impact factor: 1.166

3.  A Mathematical Theory of Natural and Artificial Selection Part X. Some Theorems on Artificial Selection.

Authors:  J B Haldane
Journal:  Genetics       Date:  1934-09       Impact factor: 4.562

4.  Answer to criticism of Morton and Lalouel.

Authors:  U Francke; J Felsenstein; S M Gartler; W L Nyhan; J E Seegmiller
Journal:  Am J Hum Genet       Date:  1977-05       Impact factor: 11.025

5.  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

6.  Clinical utility gene card for: Lesch-Nyhan syndrome--update 2013.

Authors:  Rosa J Torres; Juan G Puig; Irène Ceballos-Picot
Journal:  Eur J Hum Genet       Date:  2013-01-16       Impact factor: 4.246

7.  Selective abortion, gametic selection, and the X chromosome.

Authors:  G R Fraser
Journal:  Am J Hum Genet       Date:  1972-07       Impact factor: 11.025

Review 8.  Determinants of the incidence of Duchenne muscular dystrophy.

Authors:  Alan Edmund Stark
Journal:  Ann Transl Med       Date:  2015-11

9.  The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.

Authors:  U Francke; J Felsenstein; S M Gartler; B R Migeon; J Dancis; J E Seegmiller; F Bakay; W L Nyhan
Journal:  Am J Hum Genet       Date:  1976-03       Impact factor: 11.025
  9 in total

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