Lista de obras - Valeria Faà - Dominio Público Uruguay

A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: implications for population screening.

artículo científico publicado en 2006

A novel beta-thalassemia mutation: frameshift at codon 59 detected in an Italian carrier

artículo científico publicado en 1994

A novel silent beta-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF

scientific article published on 01 September 2004

A promoter mutation, C-->T at position -92, leading to silent beta-thalassaemia

scientific article published on 01 June 1995

A simple electrophoretic procedure for fetal diagnosis of beta-thalassaemia due to short deletions

artículo científico publicado en 1992

Alpha globin gene duplications in beta thalassemia patients with intact beta globin gene

artículo científico publicado en 2010

Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

artículo científico publicado en 2009

Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy

artículo científico publicado en 2002

Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I

artículo científico publicado en 1997

Molecular screening and fetal diagnosis of beta-thalassemia in the Italian population

scientific article published on 01 August 1992

Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis.

artículo científico publicado en 2008

Overexpression of the Cytokine BAFF and Autoimmunity Risk

artículo científico publicado en 2017

Promoter mutations producing mild beta-thalassaemia in the Italian population