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pro vyhledávání: '"LOCATELLI, LUIGI"'
Autor:
Sabater, Laura1, Locatelli, Luigi1, Oakley, Fiona1, Hardy, Timothy1, French, Jeremy2, Robinson, Stuart M.2, Sen, Gourab2, Mann, D. A.1, Mann, Jelena1 Jelena.Mann@newcastle.ac.uk
Publikováno v:
Scientific Reports. 12/10/2020, Vol. 10 Issue 1, p1-13. 13p.
Autor:
LOCATELLI, LUIGI
BACKGROUND AND AIMS: Congenital Hepatic Fibrosis (CHF) is caused by mutations in PKHD1, a gene encoding for fibrocystin, a protein of unknown function, expressed in cholangiocyte cilia and centromers. In CHF, biliary dysgenesis is accompanied by seve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1299::9d7f7df4588db349da1ad1f5688e127b
http://hdl.handle.net/10281/41733
http://hdl.handle.net/10281/41733
Autor:
Spirli, C, Fiorotto, R, Morton, S, Fabris, L, LOCATELLI, LUIGI, MORELL, CAROLA MARIA, CADAMURO, MASSIMILIANO, STRAZZABOSCO, MARIO
Genetically determined loss of fibrocystin function causes congenital hepatic fibrosis (CHF), Caroli disease (CD), and autosomal recessive polycystic kidney disease (ARPKD). Cystic dysplasia of the intrahepatic bile ducts and progressive portal fibro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1299::af59475dddb33797bb4555ad12061c5f
http://hdl.handle.net/10281/49365
http://hdl.handle.net/10281/49365
Autor:
Fabris, L, Viganò, D, De Matteis, M, Fiorotto, R, Morton, S, Spirli, C, LOCATELLI, LUIGI, SCIRPO, ROBERTO, CADAMURO, MASSIMILIANO, STRAZZABOSCO, MARIO
BACKGROUND AND AIM Congenital Hepatic Fibrosis (CHF) is a genetic liver disease caused by mutations in PKHD1, a gene encoding for Fibrocystin, a ciliary protein expressed by cholangiocytes. CHF is characterized by biliary dysgenesia associated with p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::845d4c8c3d1d392b1b2eb126ae7da0f2
http://hdl.handle.net/11577/3104731
http://hdl.handle.net/11577/3104731
Akademický článek
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Autor:
Fabris, L, Spirli, C, Popov, Y, Schuppan, D, LOCATELLI, LUIGI, CADAMURO, MASSIMILIANO, LECCHI, SILVIA, MORELL, CAROLA MARIA, STRAZZABOSCO, MARIO
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::dfa65f6de74c172574dc69b824f05af1
http://hdl.handle.net/11577/3104720
http://hdl.handle.net/11577/3104720