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 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 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 Underexpression of the apolipoprotein E2 and E4 alleles in the Greek Cypriot population of Cyprus.
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Underexpression of the apolipoprotein E2 and E4 alleles in the Greek Cypriot population of Cyprus.

Abstract Apolipoprotein E (APOE) plays an important role in the multifactorial etiology of both cardiovascular disease and Alzheimer's disease. Polymerase chain reaction (PCR) was used to investigate the APOE gene…

Continue ReadingUnderexpression of the apolipoprotein E2 and E4 alleles in the Greek Cypriot population of Cyprus.
Read more about the article Mutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus.
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Mutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus.

Abstract Sandhoff disease occurs in the Christian Maronite community in Cyprus, a community that established over a thousand years ago. Nowadays, this community comprises less than 1% of the whole…

Continue ReadingMutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus.
Read more about the article Dystrophinopathy presenting as congenital muscular dystrophy.
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Dystrophinopathy presenting as congenital muscular dystrophy.

Abstract We report a 3 1/2-year-old boy with congenital hypotonia, calf pseudohypertrophy, markedly delayed motor milestones and joint contractures. He was initially diagnosed to have congenital muscular dystrophy on the…

Continue ReadingDystrophinopathy presenting as congenital muscular dystrophy.
Read more about the article Thalassemia intermedia in two patients with Hb Lepore-beta zero-thalassemia (Frameshift codon 8, -AA).
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Thalassemia intermedia in two patients with Hb Lepore-beta zero-thalassemia (Frameshift codon 8, -AA).

Abstract

Continue ReadingThalassemia intermedia in two patients with Hb Lepore-beta zero-thalassemia (Frameshift codon 8, -AA).
Read more about the article 23rd ENMC Workshop on Rare Neuromuscular Diseases. 4-6 June, Baarn, The Netherlands.
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23rd ENMC Workshop on Rare Neuromuscular Diseases. 4-6 June, Baarn, The Netherlands.

Abstract

Continue Reading23rd ENMC Workshop on Rare Neuromuscular Diseases. 4-6 June, Baarn, The Netherlands.