Anna Buoninconti
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Amino Acid Enzymes and Metabolism, Polyamine Metabolism and Applications, Epigenetics and DNA Methylation, Folate and B Vitamins Research
Most-Cited Works
- → SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance(1999)265 cited
- → Structure of the SLC7A7 Gene and Mutational Analysis of Patients Affected by Lysinuric Protein Intolerance(2000)77 cited
- → The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy.(1998)75 cited
- → Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene(2004)23 cited
- → SLC7A8, a Gene Mapping within the Lysinuric Protein Intolerance Critical Region, Encodes a New Member of the Glycoprotein-Associated Amino Acid Transporter Family(1999)21 cited
- → Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report(1999)4 cited