Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients★

We used the allele-specific PCR-double digestion method on peripheral myelin protein 22 (PMP22) to determine duplication and deletion mutations in the proband and family members of one family with Charcot-Marie-Tooth disease type 1 and one family with hereditary neuropathy with liability to pressure...

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Hlavní autoři: Li, Xiaobo, Zi, Xiaohong, Li, Lin, Zhan, Yajing, Huang, Shunxiang, Li, Jin, Li, Xuning, Li, Xigui, Hu, Zhengmao, Xia, Kun, Tang, Beisha, Zhang, Ruxu
Médium: Artigo
Jazyk:Inglês
Vydáno: Medknow Publications & Media Pvt Ltd 2012
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4200708/
https://ncbi.nlm.nih.gov/pubmed/25337104
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3969/j.issn.1673-5374.2012.32.006
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