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BACKGROUND Although autosomal dominant polycystic kidney disease type 2 (PKD2) is known to have a milder clinical phenotype than PKD1, neither disorder has been compared with an unaffected control population in terms of survival. We report the findings of a multicentre survey that aimed to define more precisely the survival and clinical expression of PKD1(More)
BACKGROUND Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene-many of which cause cystic fibrosis-have also been reported in patients with chronic pancreatitis. The authors examine whether mild or severe CFTR mutations, homozygous or compound heterozygous CFTR mutations, or even simple cystic fibrosis carrier status alone(More)
Hemophilia A is the most frequently occurring X-linked bleeding disorder, affecting one to two out of 10,000 males worldwide. Various types of mutations in the F8 gene are causative for this condition. It is well known that the most common mutation in severely affected patients is the intron 22 inversion, which accounts for about 45% of cases with F8(More)
While analyzing data on milk productivity and culling of Kholmogor cows, we revealed the similarity of the age related viability decline indices, which were evaluated based on the age dynamics of milk yields during 305 days of lactation and the intensity of culling rate.
Limb-girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in the calpain 3 (CAPN3) gene. The clinical diagnoses of these cases in Bulgaria are very complicated, no protein analysis on muscular biopsy is available in our country, and genetic tests are the only possibility to clarify the diagnoses in clinically ambiguous cases. We screened 48(More)
Potassium (K+) channels constitute the most diverse class of ion channels; these channels are especially important for regulation of the neuronal excitability and provide signaling activity in a variety of ways. These channels are major determinants of the membrane excitability, influencing the resting potential of the membranes, waveforms and frequencies(More)
Dendrites provide the analysis and transmission of numerous and variable synaptic signals to the soma and axon hillock of nerve cells. According to generally accepted concepts, generation of action potentials (APs) is initiated precisely in the latter cell compartment. The problem of the dynamics of functioning of voltage-operated ion channels, whose(More)
Potassium (K+) channels are the most diverse class of ion channels, and are important for regulating neuronal excitability and signaling activity in a variety of ways. They are major determinants of membrane excitability, influencing the resting potential of membranes, wave forms and frequencies of action potentials, and thresholds of excitation.(More)
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