Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation.

Bertini, E; Donati, M A; Broda, P; Cassandrini, D; Petrini, S; Dionisi-Vici, C; Ballerini, L; Boldrini, R; D'Amico, A; Pasquini, E; Minetti, C; Santorelli, F M; Bruno, C

Bertini, E; Donati, M A; Broda, P; Cassandrini, D; Petrini, S; Dionisi-Vici, C; Ballerini, L; Boldrini, R; D'Amico, A; Pasquini, E; Minetti, C; Santorelli, F M; Bruno, C.

Affiliation

Bertini E; Unit of Molecular Medicine, Division of Metabolism, Bambino Gesù Children's Hospital Rome and Palidoro, Italy. ebertini@tin.it.

Neuropediatrics ; 36(5): 309-13, 2005 Oct.

Article de En | MEDLINE | ID: mdl-16217705

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Collection: 01-internacional Base de données: MEDLINE Sujet principal: Glycogénose de type IIb / Protéines lysosomales membranaires / Mutation Type d'étude: Prognostic_studies / Risk_factors_studies Limites: Adolescent / Child, preschool / Humans / Male Langue: En Journal: Neuropediatrics Année: 2005 Type de document: Article Pays d'affiliation: Italie Pays de publication: Allemagne

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