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Francesco Salvatore

Researcher at University of Naples Federico II

Publications -  444
Citations -  11778

Francesco Salvatore is an academic researcher from University of Naples Federico II. The author has contributed to research in topics: Gene & Aldolase A. The author has an hindex of 48, co-authored 433 publications receiving 10347 citations. Previous affiliations of Francesco Salvatore include University of Bologna & Argonne National Laboratory.

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Severe liver impairment in a cystic fibrosis‐affected child homozygous for the G542X mutation

TL;DR: This first case, among the 7 G542X homozygous CF subjects described so far, who shows severe liver involvement, associated pancreatic insufficiency, and moderate pulmonary expression of the disease adds the conclusion that genotype/phenotype correlation in cystic fibrosis is more complex than formerly suspected.
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Cis-acting elements in the promoter region of the human aldolase C gene

TL;DR: It is demonstrated that 420 bp of the 5'‐flanking DNA direct at high efficiency the transcription of the CAT reporter gene.
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A 15-year molecular analysis of DMD/BMD: genetic features in a large cohort

TL;DR: Two carrier women with clinical manifestations of the disease had unbalanced X inactivation with a degree of X skewing between 70% and 93%.
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A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA

TL;DR: It is demonstrated that this novel BRCA1 mutation plays a pathogenetic role in breast cancer, which reinforces the importance of studying the effects of sequence variants at the RNA level to verify their potential role in disease onset.