Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Víctor Manuel Rentería López"'
Autor:
Lourdes del Carmen Rizo de la Torre, Francisco Javier Perea Díaz, Bertha Ibarra Cortés, Víctor Manuel Rentería López, Josefina Yoaly Sánchez López, Francisco Javier Sánchez Anzaldo, María Teresa Magaña Torres, Katia Gonnet, Catherine Badens, Nathalie Bonello-Palot
Publikováno v:
Genetics and Molecular Biology, Vol 42, Iss 4 (2020)
Abstract Beta thalassemia (β-thal) is a frequent monogenic disease, is clinically and molecularly heterogeneous. This study described molecular and laboratory findings for three Mexican patients with β-thal intermedia phenotype and their relatives.
Externí odkaz:
https://doaj.org/article/8588f34652d04c23b4a056d74528f0a5
Autor:
María Teresa Magaña-Torres, Josefina Yoaly Sánchez-López, Francisco Javier Perea-Díaz, Bertha Ibarra-Cortés, Víctor Manuel Rentería-López, Lourdes Del Carmen Rizo-de la Torre
Publikováno v:
Genetic Testing and Molecular Biomarkers. 25:247-252
Introduction: Alpha- and beta-thalassemia are caused by reduced or absent synthesis of hemoglobin (Hb) subunits α and/or β. HBA2, HBA1, and HBB mutations are the main cause of thalassemias. The aim of this article is to analyze molecular and hemato
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66253e5287d0dd8f394bf8324c9f2ea9
https://doi.org/10.1089/gtmb.2020.0276
https://doi.org/10.1089/gtmb.2020.0276
Autor:
María Teresa Magaña-Torres, Francisco Javier Perea-Díaz, Josefina Yoaly Sánchez-López, Víctor Manuel Rentería-López, B. Ibarra, L. C. Rizo-de-la-Torre
Publikováno v:
International Journal of Laboratory Hematology. 39:539-545
Introduction Beta-thalassemia (β-thal) is frequent in Mexican patients with microcytosis and hypochromia. We report three novel mutations and analyze the actual mutational spectrum in Mexican population. Methods One hundred and forty-nine β-thal Me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3574851ddddafddbce9ddde9ffec9390
https://doi.org/10.1111/ijlh.12692
https://doi.org/10.1111/ijlh.12692
Autor:
Víctor Manuel Rentería-López, Francisco Javier Perea-Díaz, L. C. Rizo-de-la-Torre, Josefina Yoaly Sánchez-López, Bertha Ibarra-Cortés
Publikováno v:
Hemoglobin. 41:180-184
α-Thalassemia (α-thal), a genetic disease characterized by microcytosis, hypochromia and anemia, is predominantly caused by deletions of the α-globin genes, HBA2 and HBA1. In this study, we describe a novel 31.1 kb α-thal deletion, - -MEX3 (NC_00
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::add0108a059c3dc8d0d546a0a63238de
https://doi.org/10.1080/03630269.2017.1356330
https://doi.org/10.1080/03630269.2017.1356330