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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010 Apr 01; 362(13):1181-91.
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PubMed
subject areas
Adult
Aged
Aged, 80 and over
Charcot-Marie-Tooth Disease
Codon, Nonsense
Female
Genes, Recessive
Genetic Association Studies
Genome, Human
Genotype
Humans
Male
Middle Aged
Mutation, Missense
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Sequence Analysis, DNA
authors with profiles
AMY MCGUIRE
DONNA MUZNY
RICHARD GIBBS
PAWEL STANKIEWICZ
DAVID WHEELER
JAMES LUPSKI