Virginia Nunes

Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

Marı́a Julia Calonge, Paolo Gasparini, Miguel Chillón et al. · Nature Genetics · 1994 · 377 citations

Biology, Natural Sciences, Genetics +5

The origin of the major cystic fibrosis mutation (ΔF508) in European populations

Núria Morral, Jaume Bertranpetit, Xavier Estivill et al. · Nature Genetics · 1994 · 343 citations

Fibrosis, Mendelian Disorder, Genetic Disorder +11

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

Lídia Feliubadaló, Mariona Font, Jesús Purroy et al. · Nature Genetics · 1999 · 329 citations

Genetics, Biochemical Genetics, Molecular Biology +5

Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene

David Torrents, Juha Mykkänen, Marta Pineda et al. · Nature Genetics · 1999 · 314 citations

Protein Function, Signal Transduction, Medicine +5

Comparison between SLC3A1 and SLC7A9 Cystinuria Patients and Carriers

Luca Dello Strologo, Elon Pras, C. Pontesilli et al. · Journal of the American Society of Nephrology · 2002 · 277 citations