9 resultados para 74606
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M. Galea, Q. Shen and J. Levine. Evolutionary approaches to fuzzy modelling. Knowledge Engineering Review, 19(1):27-59, 2004.
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Primer premio Concurso Nacional Leer y Escribir, 1983, del Ministerio de Cultura
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This study describes for the first time the female of Leptodactylus cupreus and provides new information concerning its geographical distribution, male's morphology and bioacustics. Leptodactylus cupreus, a poorly known species from the Brazilian Atlantic Forest, was originally allocated in the L. mystaceus complex of the L. fuscus species group. Based on morphological observations, we infer that L. cupreus should be in fact related to L. mystacinus, a species that, although assigned to the L. fuscus species group, is not assigned to the L. mystaceus complex. Therefore, we comment the phylogenetic relationships concerning L. cupreus, L. mystaceus and L. mystacinus. © 2013 Magnolia Press.
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BACKGROUND Hereditary thrombotic thrombocytopenic purpura (TTP) caused by ADAMTS13 mutations is a rare, but serious condition. The prevalence is unknown, but seems to be high in Norway. OBJECTIVES To identify all patients with hereditary TTP in Central Norway and to investigate the prevalence of hereditary TTP and the population frequencies of two common ADAMTS13 mutations. Patients/Methods Patients were identified in a cross-sectional study within Central Norway Health Region by means of three different search strategies. Frequencies of ADAMTS13 mutations, c.4143_4144dupA and c.3178 C>T (p.R1060W) were investigated in a population-based cohort (500 alleles) and in healthy blood donors (2104 alleles) by taking advantage of the close neighbourhood of the ADAMTS13 and ABO blood group gene loci. The observed prevalence of hereditary TTP was compared to the rates of ADAMTS13 mutation carriers in different geographical regions. RESULTS We identified 11 families with hereditary TTP in Central Norway during the 10-year study period. The prevalence of hereditary TTP in Central Norway was 16.7 x 10(-6) . The most prevalent mutation was c.4143_4144dupA, accounting for two thirds of disease causing alleles among patients and having an allelic frequency of 0.33% in the Central, 0.10% in the Western, and 0.04% in the Southeastern Norwegian population. The allelic frequency of c.3178 C>T (p.R1060W) in the population was even higher (0.3-1%), but this mutation was infrequent among patients, with no homozygous cases. CONCLUSIONS We found a high prevalence of hereditary TTP in Central Norway and an apparently different penetrance of ADAMTS13 mutations. This article is protected by copyright. All rights reserved.