Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Cristina Ferrettini"'
Autor:
S. Crovella, Gina Mazzola, Doroti Pirulli, Fiorella Florian, Daniela Puzzer, Cristina Ferrettini, L. Ferri, Martino Marangella, Antonio Amoroso
Publikováno v:
Scopus-Elsevier
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2b1a2f6839a5ab4f2a38a2a23d51c2f
https://pubmed.ncbi.nlm.nih.gov/10394939
https://pubmed.ncbi.nlm.nih.gov/10394939
Autor:
Martino Marangella, Andrea Spanò, Silvana Savoldi, Michele Boniotto, Fiorella Florian, Gina Mazzola, Silvia Zezlina, Daniela Puzzer, Michele Petrarulo, Antonio Amoroso, Doroti Pirulli, Silvia Berutti, Cristina Ferrettini, Sergio Crovella
Publikováno v:
ResearcherID
Scopus-Elsevier
Scopus-Elsevier
Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder that is caused by a deficiency of alanine: glyoxylate aminotransferase (AGT), which is encoded by a single copy gene (AGXT). Molecular diagnosis was used in conjunction with clinic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24c163e1b7342d39c90e240c39f31651
https://www.ncbi.nlm.nih.gov/pubmed/11562405
https://www.ncbi.nlm.nih.gov/pubmed/11562405
Autor:
Pirulli, Doroti, Puzzer, Daniela, Ferri, Laura, Crovella, Sergio, Amoroso, A., Ferrettini, Cristina, Marangella, Martino, Mazzola, Gina, Florian, Fiorella
Publikováno v:
Human Genetics; Jul1999, Vol. 104 Issue 6, p523-525, 3p