Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Miranda Candito"'
Autor:
Maria Pia Sperandeo, 1, Maria Teresa Bassi, 2, Mirko Riboni, 2 Giancarlo Parenti, 1 Anna Buoninconti, 1 Marta Manzoni, 2 Barbara Incerti, 2 Maria Rosaria Larocca, 1 Maja Di Rocco, 6 Irma Dianzani, 7 Rossella Parini, 3 Miranda Candito, 8 Fumio Endo, BALLABIO, ANDREA, 4 Generoso Andria, 1 Gianfranco Sebastio, Giuseppe Borsani2, STRISCIUGLIO, PIETRO
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::a06e8c9eca2ddf115a2854bacc2d49ff
http://hdl.handle.net/11588/443651
http://hdl.handle.net/11588/443651
Autor:
Giancarlo Parenti, Anna Buoninconti, Barbara Incerti, Irma Dianzani, Rossella Parini, Andrea Ballabio, Gianfranco Sebastio, Maria Pia Sperandeo, Pietro Strisciuglio, Maria Rosaria Larocca, Maria Teresa Bassi, Maja Di Rocco, Miranda Candito, Fumio Endo, Generoso Andria, Mirko Riboni, Giuseppe Borsani, Marta Manzoni
Summary Lysinuric protein intolerance (LPI) is a rare autosomal recessive defect of cationic amino acid transport caused by mutations in the SLC7A7 gene. We report the genomic structure of the gene and the results of the mutational analysis in Italia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6436c9934f1b177f8c3fc28cfea5e3b
http://hdl.handle.net/11379/27713
http://hdl.handle.net/11379/27713