Výsledky vyhledávání - "Licinio, Manco"

Akademický článek

Novel homozygous nonsense mutation in the P5′N‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling

Autor: Martin Kirschner, Inga Rebecca Heinen, Steffen Koschmieder, Licinio Manco, Celeste Bento, Thomas Eggermann, Ingo Kurth, Edgar Jost, Tim H. Brümmendorf, Roland Fuchs

Publikováno v: Clinical Case Reports, Vol 10, Iss 3, Pp n/a-n/a (2022)

Abstract Hereditary pyrimidine 5‐nucleotidase (P5′N‐1) deficiency is a very rare disorder. Here, we describe a new mutation in a Turkish family. Although functional tests have not been performed, our findings confirm that the homozygous mutatio

Externí odkaz: https://doaj.org/article/e326d79000324b459096688139339b65

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Akademický článek

The population genomics of archaeological transition in west Iberia: Investigation of ancient substructure using imputation and haplotype-based methods.

Autor: Rui Martiniano, Lara M Cassidy, Ros Ó'Maoldúin, Russell McLaughlin, Nuno M Silva, Licinio Manco, Daniel Fidalgo, Tania Pereira, Maria J Coelho, Miguel Serra, Joachim Burger, Rui Parreira, Elena Moran, Antonio C Valera, Eduardo Porfirio, Rui Boaventura, Ana M Silva, Daniel G Bradley

Publikováno v: PLoS Genetics, Vol 13, Iss 7, p e1006852 (2017)

We analyse new genomic data (0.05-2.95x) from 14 ancient individuals from Portugal distributed from the Middle Neolithic (4200-3500 BC) to the Middle Bronze Age (1740-1430 BC) and impute genomewide diploid genotypes in these together with published a

Externí odkaz: https://doaj.org/article/6b4ee88f84cb4136917d70baa3b5183a

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