Role of nonsense-mediated decay and nonsense-associated altered splicing in the mRNA pattern of two new α-thalassemia mutants

Autor: Cardiero, Giovanna, Scarano, Clelia, Musollino, Gennaro, Di Noce, Francesca, Prezioso, Romeo, Dembech, Sabrina, La Porta, Gaetana, Caldora, Mercedes, Bisconte, Maria Grazia, Colella Bisogno, Rosario, Lacerra, Giuseppina

Publikováno v: In International Journal of Biochemistry and Cell Biology October 2017 91 Part B:212-222

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Identification and molecular characterization of a novel 163 kb deletion: The Italian (∊γδβ)⁰-thalassemia.

Autor: Cardiero, Giovanna¹ (AUTHOR), Prezioso, Romeo¹ (AUTHOR), Dembech, Sabrina² (AUTHOR), Del Vecchio Blanco, Francesca³ (AUTHOR), Scarano, Clelia² (AUTHOR), Lacerra, Giuseppina¹ (AUTHOR) giuseppina.lacerra@igb.cnr.it

Publikováno v: Hematology. Jun2016, Vol. 21 Issue 5, p317-324. 8p.

Identification and molecular characterization of a novel 55 kb deletion recurrent in Southern Italy: the Italian Ggamma(Agamma delta beta)°-thalassemia

Autor: Lacerra, Giuseppina, Prezioso, Romeo, Musollino, Gennaro, Mastrullo, Lucia, Piluso, Giulio, De Angioletti, Maria

Publikováno v: European journal of haematology 90 (2013): 214–219. doi:10.1111/ejh.12066
info:cnr-pdr/source/autori:Lacerra, Giuseppina; Prezioso, Romeo; Musollino, Gennaro; Mastrullo, Lucia; Piluso, Giulio; De Angioletti, Maria/titolo:Identification and molecular characterization of a novel 55 kb deletion recurrent in Southern Italy: the Italian Ggamma(Agamma delta beta)°-thalassemia./doi:10.1111%2Fejh.12066/rivista:European journal of haematology/anno:2013/pagina_da:214/pagina_a:219/intervallo_pagine:214–219/volume:90

Objectives: To characterize the molecular basis of a beta-thalassemia defect in subjects with mild microcytosis associated with normal Hb A2 and increased levels of Hb F. Methods: Six subjects from 3 apparently unrelated families from Campania (South

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::155be807a7bc99902d8c54b8db30d0bf
http://www.cnr.it/prodotto/i/230702

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