The low frequency of recessive disease: Insights from ENU mutagenesis, severity of disease phenotype, GWAS associations, and demography: An analytical review

Journal of Applied Genetics

Volumn 55, Issue 3, 2014, Pages 319-327

  Erickson, Robert P ^a   Mitchison, N Avrion ^b  

^a UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

ENU mutagenesis; Genome wide associations studies; Human population dynamics; Inheritance; Mutation

Indexed keywords

AUTOSOMAL INHERITANCE; AUTOSOMAL RECESSIVE DISORDER; CLIMATE CHANGE; DEMOGRAPHY; DISEASE SEVERITY; GENE FREQUENCY; GENETIC ASSOCIATION; HUMAN; KIDNEY POLYCYSTIC DISEASE; LIMB GIRDLE MUSCULAR DYSTROPHY; MUTAGENESIS; MUTATION RATE; NONHUMAN; PHENOTYPE; REVIEW; GENETIC DISORDER; GENETICS; HUMAN GENOME; MUTATION; RECESSIVE GENE;

ETHYLNITROSOUREA;

DEMOGRAPHY; ETHYLNITROSOUREA; GENES, RECESSIVE; GENETIC DISEASES, INBORN; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MUTAGENESIS; MUTATION; PHENOTYPE;

EID: 84904631417     PISSN: 12341983     EISSN: 21903883     Source Type: Journal    
DOI: 10.1007/s13353-014-0203-3     Document Type: Review

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