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.
Read more about the article alpha-Thalassaemia in the population of Cyprus.
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alpha-Thalassaemia in the population of Cyprus.

Abstract We have determined the alpha-thalassaemia (alpha-thal) determinants in 78 patients with Hb H disease from Cyprus; 25 were Turkish Cypriots and 53 were Greek Cypriots. Four deletional and three…

Continue Readingalpha-Thalassaemia in the population of Cyprus.
Read more about the article Weak evidence for allelic association in the cypriot PKD1 population.
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Weak evidence for allelic association in the cypriot PKD1 population.

Abstract

Continue ReadingWeak evidence for allelic association in the cypriot PKD1 population.
Read more about the article Novel cystic fibrosis mutation associated with mild disease in Cypriot patients.
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Novel cystic fibrosis mutation associated with mild disease in Cypriot patients.

Abstract Cyprus is an island in the eastern Mediterranean basin inhabited by people of Caucasian extraction, mostly Greek-Cypriots. The most common inherited disease among Caucasians is cystic fibrosis (CF). Although…

Continue ReadingNovel cystic fibrosis mutation associated with mild disease in Cypriot patients.
Read more about the article New coagulation factor V gene polymorphisms define a single and infrequent haplotype underlying the factor V Leiden mutation in Mediterranean populations and Indians.
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New coagulation factor V gene polymorphisms define a single and infrequent haplotype underlying the factor V Leiden mutation in Mediterranean populations and Indians.

Abstract Two novel polymorphisms were identified in the factor V gene by direct sequencing of intronic areas. One of them, located in intron 9, is the marker closest to the…

Continue ReadingNew coagulation factor V gene polymorphisms define a single and infrequent haplotype underlying the factor V Leiden mutation in Mediterranean populations and Indians.
Read more about the article A double mutant LDL receptor allele in a cypriot family with heterozygous familial hypercholesterolemia.
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A double mutant LDL receptor allele in a cypriot family with heterozygous familial hypercholesterolemia.

Abstract Two novel mutations Q363X and D365E were identified in the low-density lipoprotein receptor gene in a Cypriot patient with heterozygous familial hypercholesterolemia. Restriction enzyme analysis of the index case…

Continue ReadingA double mutant LDL receptor allele in a cypriot family with heterozygous familial hypercholesterolemia.
Read more about the article A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2).
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A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2).

Abstract Mutations in the PKD2 gene on the long arm of chromosome 4 are responsible for approximately 15% of cases of polycystic kidney disease. Perhaps the only difference from the…

Continue ReadingA translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2).
Read more about the article The role of electron microscopy in the diagnosis of nonneoplastic muscle diseases.
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The role of electron microscopy in the diagnosis of nonneoplastic muscle diseases.

Abstract Accurate diagnosis of muscle disease is dependent on a careful clinical examination followed by the appropriate laboratory investigations, which in a contemporary diagnostic center should also include ultrastructural investigations.…

Continue ReadingThe role of electron microscopy in the diagnosis of nonneoplastic muscle diseases.
Read more about the article New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: evolution of alleles.
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New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: evolution of alleles.

Abstract The PKD1 gene, which is responsible for the most common form of autosomal dominant polycystic kidney disease, has recently been cloned and sequenced. Many disease-causing mutations have been characterized…

Continue ReadingNew amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: evolution of alleles.