| DIAGNOSTIC TECHNIQUE FOR HEREDITARY MOTOR-SENSORY NEUROPATHY TYPE 6C | |
| 2023-12-12 | |
| 专利权人 | UNIV NORTH-EASTERN FEDERAL (UYNE-Non-standard) |
| 申请日期 | 2023-12-12 |
| 专利号 | RU2826719-C1 |
| 成果简介 | NOVELTY - Described is a method for diagnosing carriage of a mutant gene PDXK with a mutation c.659G>A (p.Arg220Gln), leading to hereditary motor-sensory neuropathy of 6C type with autosomal recessive type of inheritance in Yakut population, by molecular-genetic analysis by means of polymerase chain reaction. Method involves amplification of genomic DNA using primers. USE - Molecular biology. ADVANTAGE - More reliable diagnosis for the presence or absence of a heterozygous/homozygous mutation c.659G>A (p.Arg220Gln) in chromosome 21 of the PDXK gene. 1 cl, 4 dwg, 1 ex |
| IPC 分类号 | C12Q-001/68 ; C12Q-001/6876 |
| 国家 | 俄罗斯 |
| 专业领域 | 生物科学 |
| 语种 | 英语 |
| 成果类型 | 专利 |
| 文献类型 | 科技成果 |
| 条目标识符 | http://119.78.100.226:8889/handle/3KE4DYBR/18961 |
| 专题 | 中国科学院新疆生态与地理研究所 |
| 作者单位 | UNIV NORTH-EASTERN FEDERAL (UYNE-Non-standard) |
| 推荐引用方式 GB/T 7714 | MAKSIMOVA A A,MAKSIMOVA N R,SUKHOMYASOVA A L,et al. DIAGNOSTIC TECHNIQUE FOR HEREDITARY MOTOR-SENSORY NEUROPATHY TYPE 6C. RU2826719-C1[P]. 2023. |
| 条目包含的文件 | 条目无相关文件。 | |||||
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