Clinical Phenotypes的意思|示意

This article reviews the recent progress of research into clinical phenotypes, genotypes, diagnosis and treatment related to FDCM.

现就其近年来在临床表现型、基因型及诊断和治疗方面的最新进展进行综述。

Conclusion N395K and I848T mutations are the causes of clinical phenotypes of these patients; L858, I848 and N395 may be the hot mutation spots of SCN9A gene in primary erythermalgia.

结论SCN9A基因N395K和I848T突变为该家系和散发患者出现临床症状的原因，推测L858，I848和N395可能为该基因的突变热点。