Literature DB >> 3114647

What maintains the frequencies of human genetic diseases?

J I Rotter, J M Diamond.   

Abstract

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Year:  1987        PMID： 3114647     DOI： 10.1038/329289a0

Source DB:  PubMed          Journal:  Nature        ISSN： 0028-0836            Impact factor:   49.962


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  25 in total

Review 1.  On the difficulty of defining disease: a Darwinian perspective.

Authors:  R M Nesse
Journal:  Med Health Care Philos       Date:  2001

2.  Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection.

Authors:  Neil Risch; Hua Tang; Howard Katzenstein; Josef Ekstein
Journal:  Am J Hum Genet       Date:  2003-02-24       Impact factor: 11.025

3.  A method for detecting recent selection in the human genome from allele age estimates.

Authors:  Christopher Toomajian; Richard S Ajioka; Lynn B Jorde; James P Kushner; Martin Kreitman
Journal:  Genetics       Date:  2003-09       Impact factor: 4.562

4.  A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases.

Authors:  Montgomery Slatkin
Journal:  Am J Hum Genet       Date:  2004-06-18       Impact factor: 11.025

5.  Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations.

Authors:  R Asakai; D W Chung; O D Ratnoff; E W Davie
Journal:  Proc Natl Acad Sci U S A       Date:  1989-10       Impact factor: 11.205

Review 6.  Polymorphisms in drug-metabolizing enzymes: what is their clinical relevance and why do they exist?

Authors:  D W Nebert
Journal:  Am J Hum Genet       Date:  1997-02       Impact factor: 11.025

7.  A frequent factor XII gene mutation in Hageman trait.

Authors:  F Bernardi; G Marchetti; S Volinia; P Patracchini; A Casonato; A Girolami; F Conconi
Journal:  Hum Genet       Date:  1988-10       Impact factor: 4.132

8.  Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program.

Authors:  B H Paw; P T Tieu; M M Kaback; J Lim; E F Neufeld
Journal:  Am J Hum Genet       Date:  1990-10       Impact factor: 11.025

9.  Estimation of genotype distributions and posterior genotype probabilities for beta-mannosidosis in Salers cattle.

Authors:  J F Taylor; B Abbitt; J P Walter; S K Davis; J T Jaques; R F Ochoa
Journal:  Genetics       Date:  1993-11       Impact factor: 4.562

10.  Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.

Authors:  N Kamatani; M Hakoda; S Otsuka; H Yoshikawa; S Kashiwazaki
Journal:  J Clin Invest       Date:  1992-07       Impact factor: 14.808
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