Results 1 to 10 of about 11,759,752 (209)
Detecting and measuring selection from gene frequency data. [PDF]
Genetics, 2014 The recent advent of high-throughput sequencing and genotyping technologies makes it possible to produce, easily and cost effectively, large amounts of detailed data on the genotype composition of populations.
Vitalis R +3 more
europepmc +2 more sources
Gene frequency distributions reject a neutral model of genome evolution. [PDF]
Genome Biol Evol, 2013 Evolution of prokaryotes involves extensive loss and gain of genes, which lead to substantial differences in the gene repertoires even among closely related organisms.
Lobkovsky AE, Wolf YI, Koonin EV.
europepmc +2 more sources
Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data. [PDF]
Genet Med, 2015 Purpose:McArdle disease is one of the most common glycogen storage disorders. Although the exact prevalence is not known, it has been estimated to be 1 in 100,000 patients in the United States.
De Castro M, Johnston J, Biesecker L.
europepmc +2 more sources
Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. [PDF]
Journal of Medical Genetics, 1978 A total population study of chronic childhood spinal muscular atrophy (arrested Werdnig-Hoffmann disease, Kugelberg-Welander disease, SMA type II and III) was undertaken in north-east England to establish gene and carrier frequencies, incidence, and ...
John Pearn
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Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update [PDF]
International Journal of COPD, 2017 Ignacio Blanco,1 Patricia Bueno,2 Isidro Diego,3 Sergio Pérez-Holanda,4 Francisco Casas-Maldonado,5 Cristina Esquinas,6 Marc Miravitlles6,7 1Alpha1-Antitrypsin Deficiency Spanish Registry (REDAAT), Fundación Respira, Spanish Society of ...
Blanco I +6 more
doaj +2 more sources
Clinical and Experimental Immunology, 1992 Low plasma concentration of mannan binding protein (MBP) has been shown to be the basis for a common opsonic deficiency and suggested to be caused by a single nucleotide substitution at base 230 of exon 1 in the MBP gene.
Peter Garred +5 more
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Lifestyle Modifications on the Expression of TCF7L2 Gene Polymorphism: A Cross-sectional Study [PDF]
Journal of Clinical and Diagnostic Research, 2022 Introduction: Type 2 Diabetes Mellitus (T2DM) is the result of the clustering of factors along with the communication between environmental factors and a strong hereditary component.
Geetha Bhaktha +3 more
doaj +1 more source
Zhongguo shuxue zazhi, 2022 Objective To investigate the distribution frequency and characteristics of Rh and Kell erythrocyte blood group antigens in Uygur population in Xinjiang, and to explore the molecular mechanism of K gene positive patients, so as to build a local rare blood
Jin QIU +5 more
doaj +1 more source
Distribution of ABO, Rh, Mn, P, h blood groups and gene frequency in Lahu ethnic minority in Yunnan
Zhongguo shuxue zazhi, 2022 Objective To understand the distribution and gene frequency of main red blood cell blood groups in Lahu ethnic minority and analyze the genetic characteristics of Lahu people.
Haixia HU +8 more
doaj +1 more source
Zhongguo shuxue zazhi, 2023 Objective To research the genetic polymorphism of HPA 1-6/10/15/21 in platelet donors in Zhongshan area, and establish a gene bank of platelet donors with HPA locus.
Wensheng YUAN +5 more
doaj +1 more source