Title: | Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3 |
Journal : | PLoS Genetics, 12, 7 |
Authors: | Brewer MH, Author ; Chaudhry R ; Qi J ; Kidambi A ; Drew AP ; Menezes MP ; Ryan MM ; Farrar MA ; Mowat D ; Subramanian GM ; Young HK ; Zuchner S ; Reddel SW ; Nicholson GA ; Kennerson ML |
Material Type: | Article |
Publication Date: | 2016 |
Languages: | English |
Keywords : | ARHGAP39 gene ; Australia ; chromosome 8 ; chromosome X ; CMTX3 ; FGF13 gene ; gene dosage ; gene localization ; gene regulation ; genetic duplications ; genetic insertions ; haplotypes ; New Zealand ; sequencing ; SOX3 gene ; United Kingdom |
Pubmed / DOI : | DOI : 10.1371/journal.pgen.1006177 / Pubmed : 27438001 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/27438001 |
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