about
Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotidesSpectrum of mutations in the gene encoding the adrenoleukodystrophy proteinInactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancyIn vitro correction of cystic fibrosis epithelial cell lines by small fragment homologous replacement (SFHR) technique.A yeast ATP-binding cassette-type protein mediating ATP-dependent bile acid transport.Airway hydration and COPDRegulation of channel gating by AMP-activated protein kinase modulates cystic fibrosis transmembrane conductance regulator activity in lung submucosal cellsMutational analysis of patients with X-linked adrenoleukodystrophyLiver disease in cystic fibrosis: an updateBiological V. Social Definitions of Race: Implications for Modern Biomedical ResearchPharmacological induction of CFTR function in patients with cystic fibrosis: mutation-specific therapy.Characterization of the human multidrug resistance protein containing mutations in the ATP-binding cassette signature region.Onset of persistent pseudomonas aeruginosa infection in children with cystic fibrosis with interval censored data.Calnexin Delta 185-520 partially reverses the misprocessing of the Delta F508 cystic fibrosis transmembrane conductance regulator.Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practiceGenetic variation and clinical heterogeneity in cystic fibrosisFirst report of three cystic fibrosis patients homozygous for the 1717-1G-->A mutation.Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I.How is the Human Genome Project doing, and what have we learned so far?Cystic fibrosis--an Indian perspective on recent advances in diagnosis and management.Cystic fibrosis transmembrane conductance regulator gene mutation and lung cancer risk.mei-1, a gene required for meiotic spindle formation in Caenorhabditis elegans, is a member of a family of ATPases.Slow conversions among subconductance states of cystic fibrosis transmembrane conductance regulator chloride channelThe tyrosine kinase p60c-src regulates the fast gate of the cystic fibrosis transmembrane conductance regulator chloride channelEffect of ATP concentration on CFTR Cl- channels: a kinetic analysis of channel regulationDeterminants of mild clinical symptoms in cystic fibrosis patients. Residual chloride secretion measured in rectal biopsies in relation to the genotype.Cystic fibrosis transmembrane conductance regulator mutations that disrupt nucleotide bindingBeta-2-adrenergic receptor polymorphisms in cystic fibrosisApical CFTR expression in human nasal epithelium correlates with lung disease in cystic fibrosis.Modulation of cystic fibrosis lung disease by variants in interleukin-8.Variants in the glutamate-cysteine-ligase gene are associated with cystic fibrosis lung disease.Uptake of cystic fibrosis testing in primary care: supply push or demand pull?Screening for carriers of cystic fibrosis--a general practitioner's perspective.Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite populationTherapeutic potential of antisense oligonucleotides as modulators of alternative splicing.The future of genetic testing for drug response.The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling.Expression and localization of the cystic fibrosis transmembrane conductance regulator mRNA and its protein in rat brain.Phosphatase inhibitors activate normal and defective CFTR chloride channels
P2860
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P2860
description
1992 nî lūn-bûn
@nan
1992 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
The spectrum of cystic fibrosis mutations.
@ast
The spectrum of cystic fibrosis mutations.
@en
type
label
The spectrum of cystic fibrosis mutations.
@ast
The spectrum of cystic fibrosis mutations.
@en
prefLabel
The spectrum of cystic fibrosis mutations.
@ast
The spectrum of cystic fibrosis mutations.
@en
P1433
P1476
The spectrum of cystic fibrosis mutations.
@en
P2093
P304
P356
10.1016/0168-9525(92)90301-J
P577
1992-11-01T00:00:00Z