Výsledky vyhledávání - "Emily Giannopoulou"

A SINGLE NUCLEOTIDE POLYMORPHISM IN THE HBBP1 GENE IN THE HUMAN beta-GLOBIN LOCUS IS ASSOCIATED WITH A MILD beta-THALASSEMIA DISEASE PHENOTYPE

Autor: Alexandra Kourakli, Marianthi Georgitsi, Emily Giannopoulou, George P. Patrinos, Konstantinos Poulas, Adamantia Papachatzopoulou, Christina Tafrali, Marina Bartsakoulia, Eleana F. Stavrou

Publikováno v: Hemoglobin; Vol 36

The rs2071348 (g.5264146A>C) polymorphism on the HBB pseudogene, namely HBBP1, previously emerged as a variant significantly associated with a milder disease phenotype in Asian β(0)-thalassemia/hemoglobin (Hb) E (β(0)-thal/Hb E [β26(B8)Glu→Lys,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20771a54761c12fdf036172e06e036ad

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Genomic variation in the MAP3K5 gene is associated with β-thalassemia disease severity and hydroxyurea treatment efficacy

Autor: Eleana F. Stavrou, Arsinoi Paizi, Sjaak Philipsen, Sonja Pavlovic, Branka Zukic, Alexandra Kourakli, Marianthi Georgitsi, Marina Bartsakoulia, Olga Giannakopoulou, Emily Giannopoulou, Maja Stojiljkovic-Petrovic, Christina Tafrali, Alexander E. Felice, Joseph Borg, George P. Patrinos, Milena Radmilovic, Adamantia Papachatzopoulou, Polyxeni Lambropoulou, Konstantinos Poulas

Publikováno v: Pharmacogenomics, 14(5), 469-483. Future Medicine Ltd.
Pharmacogenomics
Pharmacogenomics; Vol 14

Aim: In this study we explored the association between genetic variations in MAP3K5 and PDE7B genes, residing on chromosome 6q23, and disease severity in β-hemoglobinopathy patients, as well as the association between these variants with response to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5b16a9d90fb82a1b84b4b20d1043eb1
https://pubmed.ncbi.nlm.nih.gov/23556445

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