Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3
全基因组测序发现,8号染色体上78 kb的插入是导致夏科-马里-图斯神经病(CMTX3)的原因。
期刊:PLoS Genetics
影响因子:3.7
doi:10.1371/journal.pgen.1006177
Brewer, Megan H; Chaudhry, Rabia; Qi, Jessica; Kidambi, Aditi; Drew, Alexander P; Menezes, Manoj P; Ryan, Monique M; Farrar, Michelle A; Mowat, David; Subramanian, Gopinath M; Young, Helen K; Zuchner, Stephan; Reddel, Stephen W; Nicholson, Garth A; Kennerson, Marina L