Read more about the article Variation in the number of FMR1 microsatellite repeats in three subgroups of the Hellenic population.
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Variation in the number of FMR1 microsatellite repeats in three subgroups of the Hellenic population.

Abstract Microsatellites have been used for human evolution and origin studies by comparing their frequency, diversity, and allele size. In this study we report the analysis of three microsatellite loci,…

Continue ReadingVariation in the number of FMR1 microsatellite repeats in three subgroups of the Hellenic population.
Read more about the article Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease.
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Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease.

Abstract There is a group of inherited cystic nephropathies that are characterized by juvenile onset recessive inheritance (familial juvenile nephronophthisis, FJN) or by adult onset dominant inheritance (medullary cystic disease,…

Continue ReadingChromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease.
Read more about the article FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population.
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FRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population.

Abstract Mutations at FRAXA and FRAXE loci are due to expansions of a CGG trinucleotide repeat and are characterized by mental retardation. Here we report a pilot screening survey by…

Continue ReadingFRAXA and FRAXE prevalence in patients with nonspecific mental retardation in the Hellenic population.
Read more about the article Rare beta-thalassemia alleles in the Greek and Greek Cypriot populations.
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Rare beta-thalassemia alleles in the Greek and Greek Cypriot populations.

Abstract

Continue ReadingRare beta-thalassemia alleles in the Greek and Greek Cypriot populations.
Read more about the article Familial discrete subaortic stenosis.
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Familial discrete subaortic stenosis.

Abstract Discrete subaortic stenosis (DSS) accounts for 8 to 20% of all cases of congenital left ventricular outflow tract obstruction. There have been few scattered reports of left ventricular obstructive…

Continue ReadingFamilial discrete subaortic stenosis.
Read more about the article A new factor V gene polymorphism (His 1254 Arg) present in subjects of african origin mimics the R2 polymorphism (His 1299 Arg)
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A new factor V gene polymorphism (His 1254 Arg) present in subjects of african origin mimics the R2 polymorphism (His 1299 Arg)

Abstract

Continue ReadingA new factor V gene polymorphism (His 1254 Arg) present in subjects of african origin mimics the R2 polymorphism (His 1299 Arg)
Read more about the article The heterozygous 20210 G/A prothrombin genotype is associated with early venous thrombosis in inherited thrombophilias and is not increased in frequency in artery disease.
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The heterozygous 20210 G/A prothrombin genotype is associated with early venous thrombosis in inherited thrombophilias and is not increased in frequency in artery disease.

Abstract A genetic variation in the 3'-untranslated region of the prothrombin mRNA (20210 G/A) has recently been reported to be associated with elevated plasma prothrombin levels and with an increased…

Continue ReadingThe heterozygous 20210 G/A prothrombin genotype is associated with early venous thrombosis in inherited thrombophilias and is not increased in frequency in artery disease.
Read more about the article Geographical clustering of low density lipoprotein receptor gene mutations (C292X; Q363X; D365E & C660X) in Cyprus.
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Geographical clustering of low density lipoprotein receptor gene mutations (C292X; Q363X; D365E & C660X) in Cyprus.

Abstract In Cyprus, no data are yet available on the frequencies of clinically diagnosed FH patients. Further, until now, familial hypercholesterolaemia in Cyprus had not been studied at the molecular…

Continue ReadingGeographical clustering of low density lipoprotein receptor gene mutations (C292X; Q363X; D365E & C660X) in Cyprus.
Read more about the article Molecular characterization of beta-thalassemia in Syria.
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Molecular characterization of beta-thalassemia in Syria.

Abstract This study concerns the determination of beta-thalassemia alleles and other hemoglobin variants in 82 patients from Syria. We have characterized 146 chromosomes and found 17 different beta-thalassemia mutations, and…

Continue ReadingMolecular characterization of beta-thalassemia in Syria.