Výsledky vyhledávání - "Rosario, Testa"

Akademický článek

Functional analysis of three new alpha-thalassemia deletions involving MCS-R2 reveals the presence of an additional enhancer element in the 5' boundary region.

Autor: Serena Capasso, Giovanna Cardiero, Gennaro Musollino, Romeo Prezioso, Rosario Testa, Sabrina Dembech, Giulio Piluso, Vincenzo Nigro, F Anna Digilio, Giuseppina Lacerra

Publikováno v: PLoS Genetics, Vol 19, Iss 5, p e1010727 (2023)

We report three novel deletions involving the Multispecies Conserved Sequences (MCS) R2, also known as the Major Regulative Element (MRE), in patients showing the α-thalassemia phenotype. The three new rearrangements showed peculiar positions of the

Externí odkaz: https://doaj.org/article/4161edcfd88b435daf3d27b383c55c42

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HbA2-Partinico or delta(A2)Pro--Thr, a new genetic variation in the delta-globin gene in cis to the beta(+) thal IVS-I-110 GA, and the heterogeneity of delta-globin alleles in double heterozygotes for beta- and delta-globin gene defects

Autor: Giuseppina, Lacerra, Clelia, Scarano, Gennaro, Musollino, Rosario, Testa, Romeo, Prezioso, Daniela G, Caruso, Laura F, Lagona, Emilia, Medulla, Maria G, Friscia, Carlo, Gaudiano, Clementina, Carestia

Publikováno v: Annals of hematology. 89(2)

The study of the alleles of the delta-globin gene is relevant to the prevention of beta-thalassemia homozygosis; in fact, the increase of the HbA2 is an invaluable hematological marker of the beta-thalassemia heterozygosis and the double heterozygosi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7d60ad00218db02c18f5e7ff04277070
https://pubmed.ncbi.nlm.nih.gov/19609526

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