Anna Buoninconti

SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

Giuseppe Borsani, Maria Teresa Bassi, Maria Pia Sperandeo et al. · Nature Genetics · 1999 · 263 citations

Putative Permease-related Protein, Lysinuric Protein Intolerance, Allergy +6

Structure of the SLC7A7 Gene and Mutational Analysis of Patients Affected by Lysinuric Protein Intolerance

Maria Pia Sperandeo, Maria Teresa Bassi, Mirko Riboni et al. · The American Journal of Human Genetics · 2000 · 76 citations · Full text

Lysinuric Protein Intolerance, Patients Affected, Medicine +7

The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy.

R. de Franchis, Anna Buoninconti, Claudia Mandato et al. · Journal of Medical Genetics · 1998 · 75 citations · Full text

SLC7A8, a Gene Mapping within the Lysinuric Protein Intolerance Critical Region, Encodes a New Member of the Glycoprotein-Associated Amino Acid Transporter Family

Maria Teresa Bassi, Maria Pia Sperandeo, Barbara Incerti et al. · Genomics · 1999 · 21 citations

Protein Secretion, Protein Function, Signal Transduction +12