Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease

Human Mutation

Volumn 37, Issue 5, 2016, Pages 488-494

  Smith, Thomas ^a   Ho, Gladys ^b   Christodoulou, John ^b,c   Price, Elizabeth Ann ^d   Onadim, Zerrin ^d   Gauthier Villars, Marion ^e   Dehainault, Catherine ^e   Houdayer, Claude ^e,f,g   Parfait, Beatrice ^g,h   van Minkelen, Rick ⁱ   Lohman, Dietmar ^j   Eyre Walker, Adam ^a  

^a UNIVERSITY OF SUSSEX   (United Kingdom)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

^d ROYAL LONDON HOSPITAL   (United Kingdom)

^e INSTITUT CURIE   (France)

^f INSTITUT CURIE   (France)

^g UNIVERSITÉ PARIS DESCARTES   (France)

^h AP HP ^*  (France)

ⁱ ERASMUS MEDICAL CENTER   (Netherlands)

^j UNIVERSITY HOSPITAL ESSEN   (Germany)

more..

Author keywords

CpG; Human mutation; Hypermutation; MECP2; Mendelian disease; NF1; RB1

Indexed keywords

DINUCLEOTIDE; METHYL CPG BINDING PROTEIN 2; NF1 PROTEIN; PROTEIN; RB1 PROTEIN; UNCLASSIFIED DRUG; MECP2 PROTEIN, HUMAN; NEUROFIBROMIN; RB1 PROTEIN, HUMAN; RETINOBLASTOMA BINDING PROTEIN; STOP CODON; UBIQUITIN PROTEIN LIGASE;

ARTICLE; CONTROLLED STUDY; CPG ISLAND; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HUMAN; MENDELIAN DISEASE; MUTATION RATE; NONHUMAN; PRIORITY JOURNAL; START CODON; ALGORITHM; GENETIC PREDISPOSITION; GENETICS; STOP CODON;

ALGORITHMS; CODON, NONSENSE; CPG ISLANDS; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; METHYL-CPG-BINDING PROTEIN 2; MUTATION RATE; NEUROFIBROMIN 1; RETINOBLASTOMA BINDING PROTEINS; UBIQUITIN-PROTEIN LIGASES;

EID: 84960884911     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22967     Document Type: Article

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