GENOTYPE-PHENOTYPE相关论文
Novel Genetic Characterization and Phenotype Correlation in von Hippel-Lindau(VHL)Disease Depends on
Objective VHL disease is an autosomal dominant genetic tumor syndrome due to mutations in the VHL gene lineage,the progn......
目的探讨血红蛋白Constant Spring(Hb CS)携带者基因型和表型的关系。方法检测HbCS携带者的血常规和血红蛋白电泳,通过跨越断裂点P......
This paper presents a modified binary particle swarm optimization(BPSO)which adopts concepts of the genotype-phenotype r......
着色性干皮病(xeroderma pigmentosum,XP)是临床上罕见的常染色体隐性遗传性皮肤病。该病由DNA损伤修复缺陷所致,具有遗传异质性性......
Objective Familial hypertrophic cardiomyopathy(HCM)is a common autosome dominant cardiovascular disease,mainly caused by......
Neurofibromatosis type Ⅰ caused by a splicing mutation in NF1 using targeted next generation sequenc
Objective Neurofibromatosis typeⅠ(NF1)is an autosomal dominant disorder which is caused by loss-of-function mutations i......
Despite its apparently simple genetics,cystic fibrosis(CF)is a rather complex genetic disease.A lot of variability in th......
