Buscar
Mostrando ítems 21-30 de 45
Curating the gnomAD database: Report of novel variants in the globin‐coding genes and bioinformatics analysis
(Wiley-liss, Div John Wiley & Sons Inc, 2019-09-25)
Massive parallel sequencing technologies are facilitating the faster identification of sequence variants with the consequent capability of untangling the molecular bases of many human genetic syndromes. However, it is not ...
Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis
(Elsevier B. V., 2015)
This review discusses hemoglobin D-Punjab, also known as hemoglobin D-Los Angeles, one of the most common hemoglobin variants worldwide. It is derived from a point mutation in the beta-globin gene (HBB: c.364G>C; rs33946267) ...
A Comprehensive, Ethnically Diverse Library of Sickle Cell Disease-Specific Induced Pluripotent Stem Cells
(Cell Press, 2017)
Sickle cell anemia affects millions of people worldwide and is an emerging global health burden. As part of a large NIH-funded NextGen Consortium, we generated a diverse, comprehensive, and fully characterized library of ...
Efeitos da N(épsilon)-(carboximetil)lisina (CML), um produto final de glicação avançada (PFGA), na doença falciforme
(Instituto Gonçalo Moniz, 2018)
DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease
(Natl Acad SciencesWashingtonEUA, 2008)
Doenças falciformes: revisão de literatura com enfoque ao tratamento com hidroxiureia
(Universidade Federal do Rio Grande do NorteBrasilUFRNFarmáciaDepartamento de farmácia, 2023)