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.
Read more about the article Esterases A5-B5 in organophosphate-resistant Culex pipiens from Italy.
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Esterases A5-B5 in organophosphate-resistant Culex pipiens from Italy.

Abstract Culex pipiens mosquitos from Lignano city, Udine province, northeast Italy, were found to carry over-produced non-specific esterases A1, A2-B2 and A4-B4 or A5-B5, detected by starch gel electrophoresis, giving…

Continue ReadingEsterases A5-B5 in organophosphate-resistant Culex pipiens from Italy.
Read more about the article Exercise-induced ventricular arrhythmias and sudden cardiac death in a family.
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Exercise-induced ventricular arrhythmias and sudden cardiac death in a family.

Abstract Members of a family have been investigated because of three sudden deaths among them. Two young sisters, aged 12 and 16, died suddenly while swimming and running, while their…

Continue ReadingExercise-induced ventricular arrhythmias and sudden cardiac death in a family.
Read more about the article Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity.
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Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity.

Abstract Familial infantile myasthenia is an autosomal recessive disorder, recently classified as congenital myasthenic syndrome type Ia. Onset of symptoms is at birth to early childhood with significant myasthenic weakness…

Continue ReadingMapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity.
Read more about the article Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome.
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Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome.

Abstract DNA and FISH (fluorescence in situ hybridization) analysis were carried out in 12 patients with stigmata of Turner syndrome to determine whether the Supernumerary Marker Chromosome (SMC) found cytogenetically…

Continue ReadingSupernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome.