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

Autor: 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.

Publikováno v: Molecular genetics and metabolism
info:cnr-pdr/source/autori:Boutron A, Marabotti A, Facchiano A, Cheillan D, Zater M, Oliveira C, Costa C, Labrune P, Brivet M; French Galactosemia Working Group/titolo:Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations./doi:10.1016%2Fj.ymgme.2012.07.025/rivista:Molecular genetics and metabolism (Print)/anno:2012/pagina_da:438/pagina_a:447/intervallo_pagine:438–447/volume:107

Background Classic galactosemia refers to galactose-1-phosphate uridyltransferase (GALT) deficiency and is characterized by long-term complications of unknown mechanism and high allelic heterogeneity of GALT gene. Aim To report molecular characteriza

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c8fac6d8fdf3574078f21cfffbde21c
http://www.cnr.it/prodotto/i/197052

O - 26 Maladie de Marchiafava-Bignami

Autor: Trzepla, G., Carluer, L., Loisel, N., Lambert, J., Coskun, Oz., Etard, O., Viader, F.

Publikováno v: In Revue Neurologique 2007 163(4) Supplement 1:132-132