Rapid nonradioactive detection of the major cystic fibrosis mutation.
about
Cystic fibrosis transmembrane regulator (CFTR) DeltaF508 mutation and 5T allele in patients with chronic pancreatitis and exocrine pancreatic cancer. PANKRAS II Study GroupAnalysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among CaucasiansNine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test.DeltaF508 CFTR protein expression in tissues from patients with cystic fibrosis.Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.Mutation detection by mismatch binding protein, MutS, in amplified DNA: application to the cystic fibrosis geneIdentification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite populationApplication of DNA analysis in a population-screening program for neonatal diagnosis of cystic fibrosis (CF): comparison of screening protocols.Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.Cystic fibrosis mutations in North American populations of French ancestry: analysis of Quebec French-Canadian and Louisiana Acadian families.Benign missense variations in the cystic fibrosis gene.CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens.CFTR and differentiation markers expression in non-CF and delta F 508 homozygous CF nasal epithelium.Genetic analysis of Hispanic individuals with cystic fibrosis.Chloride conductance and genetic background modulate the cystic fibrosis phenotype of Delta F508 homozygous twins and siblings.Pancreatic phenotype in infants with cystic fibrosis identified by mutation screeningHuman immunodeficiency virus type 1 evolution in vivo tracked by DNA heteroduplex mobility assays.Optimal polymerase chain reaction amplification for preimplantation diagnosis in cystic fibrosis (delta F508)Implementation of DNA technology.Cystic fibrosis. 3. Cloning the cystic fibrosis gene: implications for diagnosis and treatmentAssociation of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe diseaseDevelopment, multiplexing, and application of ARMS tests for common mutations in the CFTR gene.Missense variations in the cystic fibrosis gene: heteroduplex formation in the F508C mutation.Molecular characterisation of cystic fibrosis patients in the state of São Paulo (Brazil)Mutation analysis in 600 French cystic fibrosis patients.Heteroduplex formation in polymerase chain reaction.
P2860
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P2860
Rapid nonradioactive detection of the major cystic fibrosis mutation.
description
1990 nî lūn-bûn
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1990年の論文
@ja
1990年学术文章
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1990年学术文章
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1990年学术文章
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1990年学术文章
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1990年学术文章
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1990年学术文章
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1990年學術文章
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1990年學術文章
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name
Rapid nonradioactive detection of the major cystic fibrosis mutation.
@en
Rapid nonradioactive detection of the major cystic fibrosis mutation.
@nl
type
label
Rapid nonradioactive detection of the major cystic fibrosis mutation.
@en
Rapid nonradioactive detection of the major cystic fibrosis mutation.
@nl
prefLabel
Rapid nonradioactive detection of the major cystic fibrosis mutation.
@en
Rapid nonradioactive detection of the major cystic fibrosis mutation.
@nl
P2093
P2860
P1476
Rapid nonradioactive detection of the major cystic fibrosis mutation
@en
P2093
P2860
P304
P407
P577
1990-02-01T00:00:00Z