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Search: authors:"Vincenzo Rocco"

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Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN

Imerslund-Gräsbeck syndrome is a rare autosomal recessive disorder, characterized by vitamin B12 deficiency due to selective malabsorption of the vitamin and usually results in megaloblastic anemia appearing in childhood. It is responsive to parenteral vitamin B12 therapy.The estimated prevalence (calculated based on Scandinavian data) is less than 6:1,000,000. However, many...

Foreign transcriptional enhancers in yeast. II. Interplay of the polyomavirus transcriptional enhancer and Saccharomyces cerevisiae promoter elements

In this paper, to further analyze the function of the polyoma enhancer In Saccharomyces cerevislae, we use as reporter-genes derivatives of the yeast HIS3 gene flanked by two types of partially deleted promoters: in one, UAS elements are removed by deletion of sequences upstream of nt −80 (pGM3181) In the second both TATA boxes and UAS elements are removed by deletion of...