CFTR gene variant for patients with congenital absence of vas deferens.
about
Precision Genomic Medicine in Cystic FibrosisVariation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benignDivergent signature motifs of nucleotide binding domains of ABC multidrug transporter, CaCdr1p of pathogenic Candida albicans, are functionally asymmetric and noninterchangeableThe CFTR frameshift mutation 3905insT and its effect at transcript and protein level.Chronic pancreatitis and cystic fibrosis.Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls.Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis.Assessing the Disease-Liability of Mutations in CFTRCFTR polymorphisms of healthy individuals in two Chinese cities--Changchun and NanjingDevelopment of an epithelium-specific expression cassette with human DNA regulatory elements for transgene expression in lung airways.A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicingAtypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.Comparative analysis of common CFTR polymorphisms poly-T, TG-repeats and M470V in a healthy Chinese population.Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis.The CFTR M470V, intron 8 poly-T, and 8 TG-repeats detection in Chinese males with congenital bilateral absence of the vas deferens.Phenotypes of California CF Newborn Screen-Positive Children with CFTR 5T Allele by TG Repeat Length.CFTR gene variant IVS8-5T in disseminated bronchiectasis.Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials.Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.Next-generation sequencing for identifying genetic mutations in adults with bronchiectasis.
P2860
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P2860
CFTR gene variant for patients with congenital absence of vas deferens.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
CFTR gene variant for patients with congenital absence of vas deferens.
@en
CFTR gene variant for patients with congenital absence of vas deferens.
@nl
type
label
CFTR gene variant for patients with congenital absence of vas deferens.
@en
CFTR gene variant for patients with congenital absence of vas deferens.
@nl
prefLabel
CFTR gene variant for patients with congenital absence of vas deferens.
@en
CFTR gene variant for patients with congenital absence of vas deferens.
@nl
P2093
P2860
P1476
CFTR gene variant for patients with congenital absence of vas deferens.
@en
P2093
Handelin B
Markiewicz D
Patrizio P
Zielenski J
P2860
P304
P407
P577
1995-10-01T00:00:00Z