Angelo FACCHIANO | Publications

50438Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.

	2012
	Articolo in rivista
	Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene. HUMAN MUTATION. Vol. 33. Pag.1107-1115 ISSN:1059-7794.
	Tang, M; Facchiano, A; Rachamadugu, R; Calderon, F; Mao, R; Milanesi, L; Marabotti, Anna; Lai, K.
	Digital Object Identifier (DOI): 10.1002/humu.22093 Codice identificativo ISI: WOS:000304815100015 Codice identificativo SCOPUS: 2-s2.0-84861886186
	Show it in Product Database (IRIS)

50439Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.

	2012
	Articolo in rivista
	Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations. MOLECULAR GENETICS AND METABOLISM. Vol. 107. Pag.438-447 ISSN:1096-7192.
	Boutron, A; Marabotti, Anna; Facchiano, A; Cheillan, D; Zater, M; Oliveira, C; Costa, C; Labrune, P; Brivet, M; Loisel, N; Morin, G; Barth, M; Altuzarra, C; Mesli, S; Rigalleau, V; Rhead, Mh; de Schrevel, G; Thauvin Robinet, C; Santos, A; Dobbelaere, D; Mention, K; Guffon, N; Cano, A; Feillet, F; Krempf, P; Pitelet, G; Bernard, O; Hermeziu, B; Gonzalez, E; Habes, D; Jacquemin, E; de Baulny, H; Roche, S; Debray, D; de Lonlay, P; Servais, A; Touati, G; Bednarek, N; Garnotel, R; Devaux, Am; Gay, C; Eyer, D; Baruteau, J; Broué, P; Labarthe, F; Maillot, F.
	Digital Object Identifier (DOI): 10.1016/j.ymgme.2012.07.025 Codice identificativo ISI: WOS:000310720200028 Codice identificativo SCOPUS: 2-s2.0-84867895538
	Show it in Product Database (IRIS)