A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A [PDF]
, 1989 Vivian Chan, TK Chan, TM Tong, D. Todd
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Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. [PDF]
, 1992 Paula S. Henthorn +4 more
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Improving TSP Solutions Using GA with a New Hybrid Mutation Based on Knowledge and Randomness [PDF]
arXiv, 2018 Genetic algorithm (GA) is an efficient tool for solving optimization problems by evolving solutions, as it mimics the Darwinian theory of natural evolution. The mutation operator is one of the key success factors in GA, as it is considered the exploration operator of GA.
arxiv
A missense mutation in the cholesteryl ester transfer protein gene with possible dominant effects on plasma high density lipoproteins. [PDF]
, 1993 Kazuo Takahashi +9 more
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Fixation of mutators in asexual populations: the role of genetic drift and epistasis [PDF]
Evolution 67, 1143 (2013), 2012 We study the evolutionary dynamics of an asexual population of nonmutators and mutators on a class of epistatic fitness landscapes. We consider the situation in which all mutations are deleterious and mutators are produced from nonmutators continually at a constant rate.
arxiv
The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain. [PDF]
, 1991 Kathleen A. Cooney +7 more
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Maximum likelihood (ML) estimators for scaled mutation parameters with a strand symmetric mutation model in equilibrium [PDF]
arXiv, 2019 With the multiallelic parent-independent mutation-drift model, the equilibrium proportions of alleles are known to be Dirichlet distributed. A special case is the biallelic model, in which the proportions are beta distributed. A sample taken from these models is then Dirichlet-multinomially or beta-binomially distributed, respectively.
arxiv
International Journal of Endocrinology, 2018 Objective. Spondyloepiphyseal dysplasia tarda (SEDT) is a rare hereditary bone disease characterized by spinal and epiphyseal anomalies. We identified the disease by gene sequencing in a Chinese pedigree with SEDT. Methods.
Lei Kong +8 more
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The age incidence of any cancer can be explained by a one-mutation model [PDF]
arXiv, 2008 We propose a one mutation model for cancer with a mutation rate that increases with time. Under rather general hypotheses the number of mutations is necessarily a (non homogeneous) Poisson process with the prescribed mutation rate. We show that the cumulative probability of cancer up to time $t$ is, up to a multiplicative constant, an antiderivative of
arxiv
Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme. [PDF]
, 1994 C H Chen +4 more
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