Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD.
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The relevance of sweat testing for the diagnosis of cystic fibrosis in the genomic era.Rapid and reliable genotyping of polymorphic loci modifying correct splicing of CFTR pre-mRNA using mass spectrometry.Loss of SLC9A3 decreases CFTR protein and causes obstructed azoospermia in mice.The CFTR Met 470 allele is associated with lower birth rates in fertile men from a population isolate.Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benignMeta-analyses of 4 CFTR variants associated with the risk of the congenital bilateral absence of the vas deferens.Association of cystic fibrosis transmembrane conductance regulator gene variants with acute lung injury in African American children with pneumonia*.A haplotype framework for cystic fibrosis mutations in IranThe magnitude of ivacaftor effects on fluid secretion via R117H-CFTR channels: Human in vivo measurementsThe CFTR M470V, intron 8 poly-T, and 8 TG-repeats detection in Chinese males with congenital bilateral absence of the vas deferens.The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens.Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens.The CFTR gene mild variants poly-T, TG repeats and M470V detection in Indian men with congenital bilateral absence of vas deferens.Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis.Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferensScreening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs
P2860
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P2860
Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD.
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
1998年论文
@zh
1998年论文
@zh-cn
name
Linkage disequilibrium between ...... les of the CFTR gene in CBAVD.
@en
type
label
Linkage disequilibrium between ...... les of the CFTR gene in CBAVD.
@en
prefLabel
Linkage disequilibrium between ...... les of the CFTR gene in CBAVD.
@en
P2093
P2860
P356
P1476
Linkage disequilibrium between ...... les of the CFTR gene in CBAVD.
@en
P2093
Claustres M
Demaille J
Desgeorges M
Guittard C
de Meeus A
P2860
P304
P356
10.1136/JMG.35.7.594
P407
P577
1998-07-01T00:00:00Z