Read more about the article Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.
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Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.

Abstract The autosomal dominant form of polycystic kidney disease is a very frequent genetically heterogeneous inherited condition affecting approximately 1 : 1000 individuals of the Caucasian population. The main symptom…

Continue ReadingNovel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.
Read more about the article Mapping of the second Friedreich’s ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity.
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Mapping of the second Friedreich’s ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity.

Abstract Friedreich's ataxia (FRDA), the most-common form of autosomal recessive ataxia, is inherited in most cases by a large expansion of a GAA triplet repeat in the first intron of…

Continue ReadingMapping of the second Friedreich’s ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity.
Read more about the article Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay.
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Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay.

Abstract Subtelomeric chromosomal abnormalities are emerging as an important cause of human genetic disorders. The scope of this investigation was to screen a selected group of children with idiopathic mental…

Continue ReadingScreening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay.
Read more about the article Ribozyme gene therapy.
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Ribozyme gene therapy.

Abstract

Continue ReadingRibozyme gene therapy.
Read more about the article Mutations of the human polycystic kidney disease 2 (PKD2) gene.
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Mutations of the human polycystic kidney disease 2 (PKD2) gene.

Abstract Autosomal dominant polycystic kidney disease (ADPKD) is an inherited nephropathy, usually of late onset (onset between third to seventh decade), primarily characterized by the formation of fluid-filled cysts in…

Continue ReadingMutations of the human polycystic kidney disease 2 (PKD2) gene.
Read more about the article Evidence of two distinct subsubtypes within the HIV-1 subtype A radiation.
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Evidence of two distinct subsubtypes within the HIV-1 subtype A radiation.

Abstract Members of HIV-1 group M are responsible for the vast majority of AIDS cases worldwide and have been classified on the basis of their phylogenetic relationships into nine roughly…

Continue ReadingEvidence of two distinct subsubtypes within the HIV-1 subtype A radiation.
Read more about the article The MNSs blood group system in the population of South Backa.
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The MNSs blood group system in the population of South Backa.

Abstract Blood groups represent qualitative characteristics of humans which are controlled by one or a few genetic loci and due to this it is easy to determine various kinds of…

Continue ReadingThe MNSs blood group system in the population of South Backa.
Read more about the article Population genetics of factor V Leiden in Europe.
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Population genetics of factor V Leiden in Europe.

Abstract We have analyzed 5971 control individuals originating from 26 geographically defined populations in Europe and neighboring countries for the presence of factor V Leiden, an important genetic risk factor…

Continue ReadingPopulation genetics of factor V Leiden in Europe.
Read more about the article The molecular characterization of 16 new sequence variants of Hop stunt viroid reveals the existence of invariable regions and a conserved hammerhead-like structure on the viroid molecule.
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The molecular characterization of 16 new sequence variants of Hop stunt viroid reveals the existence of invariable regions and a conserved hammerhead-like structure on the viroid molecule.

Abstract At present isolates of Hop stunt viroid (HSVd) are divided into five groups: three major groups (plum-type, hop-type and citrus-type) each containing isolates from only a limited number of…

Continue ReadingThe molecular characterization of 16 new sequence variants of Hop stunt viroid reveals the existence of invariable regions and a conserved hammerhead-like structure on the viroid molecule.
Read more about the article Clinical results with direct thrombin inhibitors.
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Clinical results with direct thrombin inhibitors.

Abstract Direct thrombin inhibitors inactivate thrombin without the need for antithrombin and some inactivate not only thrombin but also fibrin-bound thrombin. Hirudin has been shown to be more effective than…

Continue ReadingClinical results with direct thrombin inhibitors.