Author: "Manzati E" / Database: OpenAIRE - Searchworks@Jio Institute Digital Library Search Results

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Your search keyword '"Manzati E"' showing total 3 results

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3 results on '"Manzati E"'

1. Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: A putative novel 'hot spot' in codon 47

Author: Ferlini, Alessandra, Obici, L, Manzati, E, Biadi, O, Tarantino, E, Conigli, P, Merlini, G, D'Alessandro, M, Mazzaferro, V, Tassinari, Ca, and Salvi, F.
Subjects: Hereditary amyloidosis, Hot spot, Missense mutations, Splicing transcription, Transthyretin gene, hereditary amyloidosis – hot spot – missense mutations – splicing – transcription – transthyretin gene
Published: 2000

2. Mutations in autosomal dominant polycystic kidney disease 2 (PKD2) gene: reduced expression of PKD2 protein in lymphoblastoid cells

Author: Aguiari, G., Manzati, E., Penolazzi, L., Micheletti, F., Augello, G., Vitali, E. D., Cappelli, Gianni, Cai, Y. Q., Reynolds, D., Somlo, S., Piva, R., and del Senno, L.
Subjects: frameshift mutation, polycystic kidney disease 2, nonsense mutation, mutations, polymorphism
Published: 1999

3. Melanocytes — A novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy

Author: Pellegrini, C., Zulian, A., Gualandi, F., Manzati, E., Merlini, L., Michelini, M.E., Benassi, L., Ferlini, A., Maraldi, N.M., Bernardi, P., and Sabatelli, P.
Subjects: Biophysics, Cell Biology, Biochemistry
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