Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients.
about
Spectrum of mutations in the Batten disease gene, CLN3Genetic mapping of the human tryptophan hydroxylase gene on chromosome 11, using an intronic conformational polymorphismWhole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosisInhibition of CFTR Cl- channel function caused by enzymatic hydrolysis of sphingomyelin.Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among CaucasiansSeverity of chest disease in cystic fibrosis patients in relation to their genotypes.Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families.A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations.Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: a pancreatic sufficiency/insufficiency mutation with variable clinical presentation.The Irish cystic fibrosis database.Mode of action and application of Scorpion primers to mutation detection.Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.CFTR gene mutations and male infertility.Evolutionary analyses of ABC transporters of Dictyostelium discoideum.Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism.Genetic methods for assessing antimicrobial resistance.Identification of cystic fibrosis transmembrane conductance regulator channel-lining residues in and flanking the M6 membrane-spanning segment.Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on BrainGenotype-phenotype correlation in cystic fibrosis: the role of modifier genes.SSCP primer design based on single-strand DNA structure predicted by a DNA folding program.Two frameshift mutations in the cystic fibrosis gene.Expression of the human cystic fibrosis transmembrane conductance regulator gene in the mouse lung after in vivo intratracheal plasmid-mediated gene transfer.A rapid molecular approach for chromosomal phasingMutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals.Genetic determination of exocrine pancreatic function in cystic fibrosisA mutation in the second nucleotide binding fold of the cystic fibrosis gene.Detecting high-resolution polymorphisms in human coding loci by combining PCR and single-strand conformation polymorphism (SSCP) analysis.A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens.Expression of the cystic fibrosis transmembrane conductance regulator gene in cells of non-epithelial origin.Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium.Mechanisms of oncogenesis in patients with familial retinoblastoma.Molecular diagnosis of ATP-binding cassette transporter-related diseases.Cystic fibrosis. 3. Cloning the cystic fibrosis gene: implications for diagnosis and treatmentcAMP-inducible chloride conductance in mouse fibroblast lines stably expressing the human cystic fibrosis transmembrane conductance regulator.Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population.Quantitative expression patterns of multidrug-resistance P-glycoprotein (MDR1) and differentially spliced cystic-fibrosis transmembrane-conductance regulator mRNA transcripts in human epithelia.Allelic discrimination of cis-trans relationships by digital polymerase chain reaction: GJB2 (p.V27I/p.E114G) and CFTR (p.R117H/5T).Detection of point mutations in human DNA by analysis of RNA conformation polymorphism(s).Non-radioactive single strand conformation polymorphism (SSCP) using the Pharmacia 'PhastSystem'.
P2860
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P2860
Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients.
description
1990 nî lūn-bûn
@nan
1990年の論文
@ja
1990年学术文章
@wuu
1990年学术文章
@zh
1990年学术文章
@zh-cn
1990年学术文章
@zh-hans
1990年学术文章
@zh-my
1990年学术文章
@zh-sg
1990年學術文章
@yue
1990年學術文章
@zh-hant
name
Multiple mutations in highly c ...... cted cystic fibrosis patients.
@en
Multiple mutations in highly c ...... cted cystic fibrosis patients.
@nl
type
label
Multiple mutations in highly c ...... cted cystic fibrosis patients.
@en
Multiple mutations in highly c ...... cted cystic fibrosis patients.
@nl
prefLabel
Multiple mutations in highly c ...... cted cystic fibrosis patients.
@en
Multiple mutations in highly c ...... cted cystic fibrosis patients.
@nl
P2093
P1433
P1476
Multiple mutations in highly c ...... cted cystic fibrosis patients.
@en
P2093
P304
P356
10.1016/0092-8674(90)90196-L
P407
P577
1990-06-01T00:00:00Z