Anna Buoninconti

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

G. Borsani, A. Ballabio, A. Grandi, 1999, Nature Genetics.

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.

G. Borsani, A. Ballabio, M. P. Sperandeo, 2000, American journal of human genetics.

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

M. P. Sperandeo, V. Capra, P. Mastroiacovo, 1998, Journal of medical genetics.

Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene

M. P. Sperandeo, G. Andria, L. Titomanlio, 2004, Clinical genetics.