Whole genome sequencing identifies causal variants in CMT
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Neurology (clinical)
Link
http://www.nature.com/articles/nrneurol.2010.108.pdf
Reference5 articles.
1. Lupski, J. R. et al. Whole-genome sequencing in a patient with Charcot–Marie–Tooth neuropathy. N. Engl. J. Med. 362, 1181–1191 (2010).
2. Senderek, J. et al. Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot–Marie–Tooth type 4C neuropathy. Am. J. Hum. Genet. 73, 1106–1119 (2003).
3. Dvoráková, L. et al. Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: the first polymorphism causing an amino acid exchange. Hum. Mutat. 18, 52–60 (2001).
4. Ng, S. B. et al. Exome sequencing identifies the cause of a mendelian disorder. Nat. Genet. 42, 30–35 (2010).
5. Hedges, D. J. et al. Exome sequencing of a multigenerational human pedigree. PLoS ONE 4, e8232 (2009).
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