Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene.
about
The elimination of primer-dimer accumulation in PCRAFLP: a new technique for DNA fingerprintingFluorescent duplex allele-specific PCR and amplicon melting for rapid homogeneous mtDNA haplogroup H screening and sensitive mixture detection.Prevalence of cystic fibrosis mutations in the Grampian region of Scotland.Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551DDevelopment of a rapid DNA screening procedure for the Factor V Leiden mutationPulmonary outcome in cystic fibrosis is influenced primarily by mucoid Pseudomonas aeruginosa infection and immune status and only modestly by genotype.Determinants of mild clinical symptoms in cystic fibrosis patients. Residual chloride secretion measured in rectal biopsies in relation to the genotype.A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosisReversal of cystic fibrosis phenotype in a cultured Delta508 cystic fibrosis transmembrane conductance regulator cell line by oligonucleotide insertion.Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.Single gene disorders affecting the gastrointestinal tract.CFTR Gene Mutations and Asthma in Indian Children: A Case-Control Study.The polymerase chain reaction: a tool for molecular medicine.Cystic fibrosis carrier testing in early pregnancy by general practitioners.Uptake of cystic fibrosis testing in primary care: supply push or demand pull?Estimation of the incidence of a rare genetic disease through a two-tier mutation surveyThe founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women.The prevalence of common CFTR mutations in Iranian infertile men with non-CAVD obstructive azoospermia by using ARMS PCR techniques.The detection of K-ras mutations in colorectal cancer using the amplification-refractory mutation system.Active cascade testing for carriers of cystic fibrosis gene.Antenatal screening for cystic fibrosis: a trial of the couple modelAllele-Specific Quantitative PCR for Accurate, Rapid, and Cost-Effective Genotyping.Diagnosis of neonatal group B Streptococcus sepsis by nested-PCR of residual urine samples.Allele-specific PCR method based on pncA and oxyR sequences for distinguishing Mycobacterium bovis from Mycobacterium tuberculosis: intraspecific M. bovis pncA sequence polymorphism.Development of a multiplex ARMS test for mutations in the HFE gene associated with hereditary haemochromatosis.Rapid detection of rpoB gene mutations in rifampin-resistant Mycobacterium tuberculosis isolates in shanghai by using the amplification refractory mutation system.Human histocompatibility leukocyte antigen-binding supermotifs predict broadly cross-reactive cytotoxic T lymphocyte responses in patients with acute hepatitis.Mutagenically separated PCR (MS-PCR): a highly specific one step procedure for easy mutation detection.Chronic pancreatitis: A new pathophysiology.Evaluation of laboratory methods for cystic fibrosis carrier screening: reliability, sensitivity, specificity, and costs.Utilities for high throughput use of the single strand conformational polymorphism method: screening of 791 patients with familial hypercholesterolaemia for mutations in exon 3 of the low density lipoprotein receptor gene.Use of chimeric DNA-RNA primers in quantitative PCR for detection of Ehrlichia canis and Babesia canis.Failure to refer for testing for cystic fibrosis. Doctors must ensure that those with a family history are advised appropriatelyAnalysis of CFTR Gene Mutations in Children with Cystic Fibrosis, First Report from North-East of Iran.Cystic fibrosis genotypes and views on screening are both heterogeneous and population related.Frequency of CFTR, SPINK1, and cathepsin B gene mutation in North Indian population: connections between genetics and clinical data.Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.
P2860
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P2860
Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene.
description
1992 nî lūn-bûn
@nan
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
1992年论文
@zh
1992年论文
@zh-cn
name
Development, multiplexing, and ...... on mutations in the CFTR gene.
@en
type
label
Development, multiplexing, and ...... on mutations in the CFTR gene.
@en
prefLabel
Development, multiplexing, and ...... on mutations in the CFTR gene.
@en
P2093
P2860
P1476
Development, multiplexing, and ...... on mutations in the CFTR gene.
@en
P2093
Robertson NH
Schwarz MJ
P2860
P304
P407
P577
1992-08-01T00:00:00Z