Single Nucleotide Polymorphism

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

Genetics / Science / Polyadenylation / Adolescent / Multidisciplinary / Humans / Haplotypes / Muscular Dystrophy / Female / Male / Young Adult / Aged / Middle Aged / Adult / Single Nucleotide Polymorphism / Transfection / Base Sequence / Humans / Haplotypes / Muscular Dystrophy / Female / Male / Young Adult / Aged / Middle Aged / Adult / Single Nucleotide Polymorphism / Transfection / Base Sequence

Physical and Genetic Characterization Reveals a Pseudogene, an Evolutionary Junction, and Unstable Loci in Distal Xq28

Information Systems / Genetics / Genomics / Molecular Evolution / Humans / Mice / Haplotypes / Animals / Single Nucleotide Polymorphism / Linkage Disequilibrium / X chromosome / High Density Concrete / Genome sequence / Pseudogenes / Molecular Sequence Data / Mice / Haplotypes / Animals / Single Nucleotide Polymorphism / Linkage Disequilibrium / X chromosome / High Density Concrete / Genome sequence / Pseudogenes / Molecular Sequence Data

Growth hormone receptor variant (L526I) modifies plasma HDL cholesterol phenotype in familial hypercholesterolemia: Intra-familial association study in an eight-generation hyperlipidemic kindred

Genetics / Association study / Humans / Female / Male / Plasma / American / Pedigree / Phenotype / Clinical Sciences / Association / Middle Aged / Snp / Adult / Single Nucleotide Polymorphism / Lipoproteins / Growth Hormone Receptor / Genetic variation / Familial Hypercholesterolemia / Codon / Amino Acid Substitution Rates / Variant / Plasma / American / Pedigree / Phenotype / Clinical Sciences / Association / Middle Aged / Snp / Adult / Single Nucleotide Polymorphism / Lipoproteins / Growth Hormone Receptor / Genetic variation / Familial Hypercholesterolemia / Codon / Amino Acid Substitution Rates / Variant

Interleukin-10 polymorphisms in Spanish IgA deficiency patients: a case-control and family study

Genetics / Polymorphism / Spain / Humans / Primary Immunodeficiency / Female / Male / Phenotype / Clinical Sciences / Single Nucleotide Polymorphism / European Continental Ancestry Group / Family Study / Immunoglobulin / Inheritance Patterns / Case Control Studies / Interleukin / Female / Male / Phenotype / Clinical Sciences / Single Nucleotide Polymorphism / European Continental Ancestry Group / Family Study / Immunoglobulin / Inheritance Patterns / Case Control Studies / Interleukin

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