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Article
Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two South European populations
Three polymorphic DNA marker loci (INT1L1, D7S23 and D7S399) map to a chromosomal region that is very close to the cystic fibrosis (CF) locus in terms of genetic distance. These marker loci have been used to a...
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Article
Detection of a rare allele with the pMP6d-9/MspI RFLP near the cystic fibrosis locus
We report a rare allele detected using pMP6d-9, a probe very closely linked to cystic fibrosis (CF), on digestion with MspI. This allele has been found in normal and CF chromosomes, and therefore cannot be relate...
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Article
Distribution of the ΔF508 mutation in 194 Spanish cystic fibrosis families
Spanish cystic fibrosis (CF) families (n = 194) have been analysed for the ΔF508 mutation, and for closely linked DNA markers. The ΔF508 mutation accounts for 50% of CF chromosomes. Four haplotypes are associated...
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Article
Analysis of 14 cystic fibrosis mutations in five South European populations
We have analysed five Southern European populations (Albanian, Greek, Italian, Spanish and Yugoslavian) for 14 cystic fibrosis (CF) mutations. The most frequent mutations, apart from ΔF508, were G542X (6.04%),...
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Article
Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
We describe a polymorphic microsatellite (IVS17BCA) in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It consists of an 11 to 20 CA/GT dinucleotide repeat, located 424 bp fr...
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Article
Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene
The N1303K mutation was identified in the second nucleotide binding fold of the cystic fibrosis (CF) gene last year. We have gathered data from laboratories throughout Europe and the United States of America i...
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Article
A rare DNA variant in exon 15 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
We describe a rare single-strand conformation polymorphism that occurs at nucleotide 3030 (G or A) in exon 15 of the cystic fibrosis transmembrane conductance regulator gene.
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Article
Fourth meeting of the European Neurological Society 25–29 June 1994 Barcelona, Spain
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Article
The origin of the major cystic fibrosis mutation (ΔF508) in European populations
ΔF508 is the most frequent cystic fibrosis (CF) mutation and accounts for approximately 70% of CF chromosomes worldwide. Three highly polymorphic microsatellite markers have been used to study the origin and e...
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Article
Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected
Mutations in the cystic fibrosis (CF) conductance transmembrane regulator (CFTR) gene have been detected in patients with CF and in males with infertility attributable to congenital bilateral absence of the va...
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Article
Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences
We present the genotype/phenotype correlation analysis for 16 cystic fibrosis (CF) patients who carry mutation R334W. Current age and age of diagnosis was significantly higher in the R334W/any-mutation group (P <...
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Article
The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence
A deletion of one of the two copies of a 9-bp direct repeat sequence (CCCCCTCTA) in region V of mitochondrial DNA has previously been used as a polymorphic anthropological marker for people of east Asian origi...
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Article
The molecular basis of cystinuria: the role of the rBAT gene
The cDNAs of mammalian amino acid transporters already identified could be grouped into four families. One of these protein families is composed of the protein rBAT and the heavy chain of the cell surface anti...
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Article
Open Accesshttp://www.euro-wabb.org: an EU Register for Alstrom, Bardet Biedl andother rare syndromes
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Chapter and Conference Paper
Hydrogen Production via Wastewater Electrolysis—An Integrated Approach Review
Human activities generate enormous amounts of wastewater. The hydrogen production from this new resource has gained attention as an emergent technology. Incorporating photovoltaic energy production with differ...
