lumacaftor-lumacaftor
注释ID
1449192136
变量_单倍型
rs80034486
基因
CFTR
药物名称(英)
lumacaftor
药物名称(中)
lumacaftor
PMID
26137539
类型
Efficacy
含义
no
记事
N1303K allele. Study carried out using primary bronchial epithelial cells from donors with cystic fibrosis. Secretion of chloride ions across the cell membrane was measured to determine CFTR activity. Cells had the CFTR genotype N1303K/G542X. As the G542X allele does not generate a protein molecule, these cells were used to assess the effects of lumacaftor on the N1303K allele only.
专家论述
Allele G is not associated with response to lumacaftor.
等位基因
G
专家评论
备注
变体注释摘要
id研究类型特征类型
26064 Unknown
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