Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Sabrina Dembech"'
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
Autor:
Maria Grazia Bisconte, Giovanna Cardiero, Sabrina Dembech, Francesca Di Noce, Clelia Scarano, Mercedes Caldora, Giuseppina Lacerra, Gaetana La Porta, Romeo Prezioso, Gennaro Musollino, Rosario Colella Bisogno
Publikováno v:
International journal of biochemistry & cell biology 91 (2017): 212–222. doi:10.1016/j.biocel.2017.07.014
info:cnr-pdr/source/autori:Giovanna Cardiero a, Clelia Scarano b, Gennaro Musollino a, Francesca Di Noce a, Romeo Prezioso a, Sabrina Dembech b, Gaetana La Porta c, Mercedes Caldora d, Maria Grazia Bisconte c, Rosario Colella Bisogno e, Giuseppina Lacerra a,?/titolo:Role of nonsense-mediated decay and nonsense-associated altered splicing in the mRNA pattern of two new alpha-thalassemia mutants/doi:10.1016%2Fj.biocel.2017.07.014/rivista:International journal of biochemistry & cell biology/anno:2017/pagina_da:212/pagina_a:222/intervallo_pagine:212–222/volume:91
info:cnr-pdr/source/autori:Giovanna Cardiero a, Clelia Scarano b, Gennaro Musollino a, Francesca Di Noce a, Romeo Prezioso a, Sabrina Dembech b, Gaetana La Porta c, Mercedes Caldora d, Maria Grazia Bisconte c, Rosario Colella Bisogno e, Giuseppina Lacerra a,?/titolo:Role of nonsense-mediated decay and nonsense-associated altered splicing in the mRNA pattern of two new alpha-thalassemia mutants/doi:10.1016%2Fj.biocel.2017.07.014/rivista:International journal of biochemistry & cell biology/anno:2017/pagina_da:212/pagina_a:222/intervallo_pagine:212–222/volume:91
alpha-thalassemia is a common disease characterized mainly by deletion mutants. We identified two new ?-thalassemia pointform mutants: alpha1cod22 GGC > GGT Gly > Gly creating a 5' splicing sequence and alpha1cod23 GAG > TAG Glu > stop. We performed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79dab02575881647c0fc5708a68878b5
https://pubmed.ncbi.nlm.nih.gov/28743675
https://pubmed.ncbi.nlm.nih.gov/28743675