Read more about the article Novel trinucleotide deletion in Fabry’s disease.
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Novel trinucleotide deletion in Fabry’s disease.

Abstract We describe the molecular characterization of a novel, in-frame deletion that is located in exon 7 of the alpha-galactosidase A gene in a patient with Fabry's disease. The 3-bp…

Continue ReadingNovel trinucleotide deletion in Fabry’s disease.
Read more about the article Congenital myasthenic syndromes. 34th ENMC International Workshop, 10-11 June 1995.
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Congenital myasthenic syndromes. 34th ENMC International Workshop, 10-11 June 1995.

Abstract

Continue ReadingCongenital myasthenic syndromes. 34th ENMC International Workshop, 10-11 June 1995.
Read more about the article Safety and feasibility of liver-directed ex vivo gene therapy for homozygous familial hypercholesterolemia.
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Safety and feasibility of liver-directed ex vivo gene therapy for homozygous familial hypercholesterolemia.

Abstract The purpose of this report was to provide detailed information on the safety and feasibility of surgical procedures associated with the first ex vivo liver-directed gene therapy trial for…

Continue ReadingSafety and feasibility of liver-directed ex vivo gene therapy for homozygous familial hypercholesterolemia.
Read more about the article Moderate reduction of beta-globin gene transcript by a novel mutation in the 5′ untranslated region: a study of its interaction with other genotypes in two families.
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Moderate reduction of beta-globin gene transcript by a novel mutation in the 5′ untranslated region: a study of its interaction with other genotypes in two families.

Abstract We have identified two individuals of Greek Cypriot origin with thalassemia intermedia. Molecular analysis has shown that each individual is a compound heterozygote for a previously described beta zero…

Continue ReadingModerate reduction of beta-globin gene transcript by a novel mutation in the 5′ untranslated region: a study of its interaction with other genotypes in two families.
Read more about the article Genetics-based machine learning for the assessment of certain neuromuscular disorders.
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Genetics-based machine learning for the assessment of certain neuromuscular disorders.

Abstract Clinical electromyography (EMG) provides useful information for the diagnosis of neuromuscular disorders. The utility of artificial neural networks (ANN's) in classifying EMG data trained with backpropagation or Rohonen's self-organizing…

Continue ReadingGenetics-based machine learning for the assessment of certain neuromuscular disorders.
Read more about the article Complete coding sequence, exon/intron arrangement and chromosome location of ZNF45, a KRAB-domain-containing gene.
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Complete coding sequence, exon/intron arrangement and chromosome location of ZNF45, a KRAB-domain-containing gene.

Abstract Zinc finger genes represent a large multigene family present in mammalian and other genomes. A subgroup of these genes contain a conserved motif, the KRAB domain, at the NH2-terminal…

Continue ReadingComplete coding sequence, exon/intron arrangement and chromosome location of ZNF45, a KRAB-domain-containing gene.
Read more about the article The distribution of the ABO and Rhesus blood groups (phenotype and allele frequencies) in the populations of Cyprus.
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The distribution of the ABO and Rhesus blood groups (phenotype and allele frequencies) in the populations of Cyprus.

Abstract The distribution of ABO and Rhesus blood groups in the populations of Cyprus have been studied in 47,759 individuals (about 8% of the Greek-Cypriot population). The data were classified…

Continue ReadingThe distribution of the ABO and Rhesus blood groups (phenotype and allele frequencies) in the populations of Cyprus.
Read more about the article Genetic analysis of human immunodeficiency virus type 1 strains from patients in Cyprus: identification of a new subtype designated subtype I.
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Genetic analysis of human immunodeficiency virus type 1 strains from patients in Cyprus: identification of a new subtype designated subtype I.

Abstract DNA sequences encoding the C2 to V3 region of envelope glycoprotein gp120 of human immunodeficiency virus type 1 (HIV-1) were amplified by PCR from uncultured peripheral blood mononuclear cells…

Continue ReadingGenetic analysis of human immunodeficiency virus type 1 strains from patients in Cyprus: identification of a new subtype designated subtype I.
Read more about the article Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.
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Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.

Abstract An autosomal dominant distal form of spinal muscular atrophy mainly affecting the upper limbs with a mean age of onset of 17 years has been identified in a large…

Continue ReadingMapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.
Read more about the article Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families.
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Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families.

Abstract Polycystic kidney disease is an inherited heterogeneous disorder that affects approximately 1:1000 Europeans. It is characterized mainly by the formation of cysts in the kidney that lead to end-stage…

Continue ReadingGenetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families.