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一个常染色体显性遗传腓骨肌萎缩症2K家系的GDAP1基因突变分析
OBJECTIVE: To investigate the molecular genetic mechanism of Charcot- Marie-Tooth (CMT) disease in a pedigree. METHODS: Genomic DNA was extracted from the peripheral blood of the family members of a pedigree with autosomal dominant CMT disease, and 65 candidate genes of the proband were screened usi...
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| Udgivet i: | Nan Fang Yi Ke Da Xue Xue Bao |
|---|---|
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
南方医科大学学报编辑部
2019
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6765573/ https://ncbi.nlm.nih.gov/pubmed/30692068 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12122/j.issn.1673-4254.2019.01.10 |
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