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Your search keyword '"Mareni, C."' showing total 3 results
Start Over Author "Mareni, C." Journal journal of medical genetics
3 results on '"Mareni, C."'

1. Favism: looking for an autosomal gene associated with glucose-6-phosphate dehydrogenase deficiency.

Author

Mareni, C, Repetto, L, Forteleoni, G, Meloni, T, and Gaetani, G F

Abstract

Favism is a severe, acute haemolytic anaemia which occurs in about 20% of G6PD deficient subjects after ingestion of fava beans. Since not all G6PD deficient subjects are sensitive to fava beans, the possibility has been suggested that extra erythrocytic factors may play an important role in the susceptibility to haemolytic favism. To test the hypothesis that an autosomal enzyme is involved in the pathogenesis of favism, we carried out a beta-glucosidase assay in small intestine biopsies from normal subjects and G6PD deficient subjects with or without favism. Beta-glucosidase might be involved in the absorption and metabolism of fava beans and a quantitative polymorphism could explain the different susceptibility to fava beans of G6PD deficient subjects. Our observation showed no consistent quantitative polymorphism of beta-glucosidase in the subjects examined. [ABSTRACT FROM PUBLISHER]

Published
1984

2. A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family.

Author

Montera M, Piaggio F, Marchese C, Gismondi V, Stella A, Resta N, Varesco L, Guanti G, and Mareni C

Subjects
Adenomatous Polyposis Coli pathology, Adenomatous Polyposis Coli Protein chemistry, Adenomatous Polyposis Coli Protein genetics, Adolescent, Adult, Aged, Alleles, Arginine genetics, Child, Child, Preschool, Codon genetics, Female, Genotype, Humans, Male, Middle Aged, Pedigree, Phenotype, Protein Isoforms chemistry, Protein Isoforms genetics, Adenomatous Polyposis Coli genetics, Alternative Splicing genetics, Exons genetics, Genes, APC, Point Mutation genetics
Published
2001
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3. Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients.

Author

Montera M, Resta N, Simone C, Guanti G, Marchese C, Civitelli S, Mancini A, Pozzi S, De Salvo L, Bruzzone D, Donadini A, Romio L, and Mareni C

Subjects
Adaptor Proteins, Signal Transducing, Adult, Carrier Proteins, Colorectal Neoplasms, Hereditary Nonpolyposis genetics, DNA Mutational Analysis, Female, Genetic Predisposition to Disease, Humans, Male, Microsatellite Repeats, Middle Aged, MutL Protein Homolog 1, MutS Homolog 2 Protein, Nuclear Proteins, Polymorphism, Single-Stranded Conformational, Predictive Value of Tests, Colorectal Neoplasms genetics, DNA-Binding Proteins, Germ-Line Mutation, Neoplasm Proteins genetics, Proto-Oncogene Proteins genetics
Published
2000
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