Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.
about
CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patientsConsensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practiceThe suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal lociNewborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategyMetallo-phthalocyanine near-IR fluorophores: oligonucleotide conjugates and their applications in PCR assaysNext generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR.Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene.Prediction, prevention and personalisation of medication for the prenatal period: genetic prenatal tests for both rare and common diseasesCFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.Assessing the Disease-Liability of Mutations in CFTRNext-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic FibrosisMutation spectrum of Egyptian children with cystic fibrosis.Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion.Diagnostic CFTR mutation analysis.Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens--implications for newborn screening.Molecular Analysis of Cystic Fibrosis Patients in Hungary - An Update to the Mutational SpectrumA comprehensive assay for CFTR mutational analysis using next-generation sequencing.Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosisClinical diagnostic Next-Generation sequencing: the case of CFTR carrier screening.Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population.Correlations between long inverted repeat (LIR) features, deletion size and distance from breakpoint in human gross gene deletions.Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7.Large genomic rearrangements in the CFTR gene contribute to CBAVD.A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: implications for population screening.Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis.Improved detection of CFTR mutations in Southern California Hispanic CF patients.Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients.The CFTR gene mild variants poly-T, TG repeats and M470V detection in Indian men with congenital bilateral absence of vas deferens.Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms.Comprehensive genetic study of cystic fibrosis in Slovak patients in 25 years of genetic diagnostics.Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms
P2860
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P2860
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.
description
2000 nî lūn-bûn
@nan
2000 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի մարտին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Characterization of a novel 21 ...... on in Central and East Europe.
@ast
Characterization of a novel 21 ...... on in Central and East Europe.
@en
Characterization of a novel 21 ...... on in Central and East Europe.
@nl
type
label
Characterization of a novel 21 ...... on in Central and East Europe.
@ast
Characterization of a novel 21 ...... on in Central and East Europe.
@en
Characterization of a novel 21 ...... on in Central and East Europe.
@nl
prefLabel
Characterization of a novel 21 ...... on in Central and East Europe.
@ast
Characterization of a novel 21 ...... on in Central and East Europe.
@en
Characterization of a novel 21 ...... on in Central and East Europe.
@nl
P2093
P50
P356
P1433
P1476
Characterization of a novel 21 ...... mon in Central and East Europe
@en
P2093
A Krebsová
A Pogorzelski
C Zékanowsky
H H Seydewitz
I Sakmaryová
P2888
P304
P356
10.1007/S004390000246
P577
2000-03-01T00:00:00Z
P5875
P6179
1038121373