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Sortilina e risco de doença cardiovascular

[PT] O nível plasmático de c-LDL constitui um determinante chave para o risco de doença cardiovascular, razão pela qual muitos estudos têm procurado elucidar as vias que regulam o seu metabolismo. As novas técnicas de sequenciação de última geração permitiram identificar um forte sinal de associação entre o locus 1p13 e o risco de doença cardiovascular causada por alteração dos níveis de LDL no plasma. Como ser...

Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Pho...

Mucolipidosis type II α/β is a severe, autosomal recessive lysosomal storage disorder, caused by a defect in the GNPTAB gene that codes for the α/β subunits of the GlcNAc-phosphotransferase. To date, over 100 different mutations have been identified in MLII α/β patients, but no large deletions have been reported. Here we present the first case of a large homozygous intragenic GNPTAB gene deletion (c.3435-386_36...

Molecular characterization of Portuguese patients with pathologies related to t...

Insights from pattern of mtDNA variation into the genetic history of São Tomé e...

Sequence data from the hypervariable segments I (HVS-I) and II (HVS-II) was obtained for 30 Angolares, 35 Forros and 38 Tongas, three self-reported ethnic groups from São Tomé e Príncipe, an African archipelago (Gulf of Guinea) whose settlement begun in the late 15th century. The repertory of mtDNA lineages denoted a fully African maternal pool primarily arisen from a Central/Southwestern substratum. The absenc...

STR data from S. Tomé e Príncipe (Gulf of Guinea, West Africa)

Allele frequencies for eight STRs (CD4, FES/FPS, MBPB, TH01, TP53, TPO, F13A1, VWA) were estimated from samples (sized between 279 and 328) of unrelated individuals born in S. Tomé e Príncipe (Gulf of Guinea, West Africa). ; http://www.sciencedirect.com/science/article/B6T6W-41WJBSP-8/1/a84a6eb4f309df8255225fa49f985dd7