Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

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ID: 269336
2010
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Abstract
As shown in this study of a family with Charcot-Marie-Tooth disease, whole-genome sequencing can identify clinically relevant variants and provide diagnostic information to inform the care of patients.
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Authors Lupski JR;Reid JG;Gonzaga-Jauregui C;Rio Deiros D;Chen DC;Nazareth L;Bainbridge M;Dinh H;Jing C;Wheeler DA;McGuire AL;Zhang F;Stankiewicz P;Halperin JJ;Yang C;Gehman C;Guo D;Irikat RK;Tom W;Fantin NJ;Muzny DM;Gibbs RA;;
Journal The New England journal of medicine
Year 2010
DOI DOI not found
URL
http://www.ncbi.nlm.nih.gov/pubmed/20220177
Keywords
National Center for Biotechnology Information NCBI NLM MEDLINE humans pubmed abstract nih national institutes of health national library of medicine research support adult female male N.I.H. Extramural aged middle aged codon 80 and over DNA Genes Sequence Analysis genome phenotype Genotype Polymorphism mutation single nucleotide pedigree human* pmid:20220177 pmc4036802 doi:10.1056/nejmoa0908094 james r lupski jeffrey g reid richard a gibbs charcot-marie-tooth disease / genetics* nonsense recessive genetic association studies* missense

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