Objective To identify additional epidermolysis bullosa simplex(EBS) mutations for studying the correlation between genotype and phenotype of EBS, and to provide hasis for genetic counselling, as well as for gene diagnosis and gene therapy.

 
  • 目的鑒定更多的單純型大皰性表皮松解癥(EBS)突變以研究EBS基因型和表型關(guān)系,為EBS的遺傳咨詢(xún)及基因診斷和基因治療奠定基礎。
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