(Q58277988)

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Single-stranded conformation polymorphism analysis of the CFTR gene in slovenian cystic fibrosis patients: Detection of mutations and sequence variations

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scholarly article

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Single-stranded conformation polymorphism analysis of the CFTR gene in slovenian cystic fibrosis patients: Detection of mutations and sequence variations (English)

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cystic fibrosis

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Michael Dean

4

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author name string

Metka Ravnik-Glavač

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Damjan Glavač

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Radovan Komel

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publication date

1993

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2

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4

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286-292

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Generation of cAMP-Activated Chloride Currents by Expression of CFTR

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A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

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Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations

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A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

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Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease

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Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

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A HinfI polymorphism in the cystic fibrosis gene CFTR.

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Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions

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The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences.

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Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

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Two new mutations detected by single-strand conformation polymorphism analysis in cystic fibrosis from Russia

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Identification of the cystic fibrosis gene: genetic analysis

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Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene

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[31] Detection and localization of single base changes by denaturing gradient gel electrophoresis

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Analysis of 14 cystic fibrosis mutations in five South European populations

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Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

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DNA sequence polymorphisms in Alu repeats

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Effect of Deleting the R Domain on CFTR-Generated Chloride Channels

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10.1002/HUMU.1380020408

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