about
Complexity and diversity of F8 genetic variations in the 1000 genomesImpact of the CFTR-potentiator ivacaftor on airway microbiota in cystic fibrosis patients carrying a G551D mutation.Cystic fibrosis: an inherited disease affecting mucin-producing organs.Functional characteristics of L1156F-CFTR associated with alcoholic chronic pancreatitis in Japanese.p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis.The cystic fibrosis intestine.Impact of heterozygote CFTR mutations in COPD patients with chronic bronchitis.Self-reactive CFTR T cells in humans: implications for gene therapy.Unmet needs in respiratory diseases : "You can't know where you are going until you know where you have been"--Anonymous.Regulation of mRNA turnover in cystic fibrosis lung disease.Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis.Correction of CFTR function in nasal epithelial cells from cystic fibrosis patients predicts improvement of respiratory function by CFTR modulators.The vectorial transport of salts and water is crucial for respiratory epithelial cell lines.Brazilian guidelines for the diagnosis and treatment of cystic fibrosis.Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy.Cystic fibrosis carrier screening in a North American population.Conditionally reprogrammed primary airway epithelial cells maintain morphology, lineage and disease specific functional characteristics.The CFTR gene mild variants poly-T, TG repeats and M470V detection in Indian men with congenital bilateral absence of vas deferens.The potential of antisense oligonucleotide therapies for inherited childhood lung diseases.Improving imputation in disease-relevant regions: lessons from cystic fibrosis.
P2860
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P2860
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Assessing the Disease-Liability of Mutations in CFTR
@ast
Assessing the Disease-Liability of Mutations in CFTR
@en
type
label
Assessing the Disease-Liability of Mutations in CFTR
@ast
Assessing the Disease-Liability of Mutations in CFTR
@en
prefLabel
Assessing the Disease-Liability of Mutations in CFTR
@ast
Assessing the Disease-Liability of Mutations in CFTR
@en
P2860
P1476
Assessing the Disease-Liability of Mutations in CFTR
@en
P2093
Claude Ferec
Garry R Cutting
P2860
P304
P356
10.1101/CSHPERSPECT.A009480
P577
2012-12-01T00:00:00Z