Abstract
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…
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…
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…
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.…
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…
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…
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…
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…
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…
