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Cortical malformations and COL4A1 mutation: Three new cases

Vitale, G; Pichiecchio, A; Ormitti, F; Tonduti, D; Asaro, A; Farina, L; Piccolo, B; Percesepe, A; Bastianello, S; Orcesi, S

Pichiecchio, A (reprint author), Via Mondino 2, I-27100 Pavia, Italy.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2019; 23 (3): 410

Abstract

Aim: The COL4A1 gene (13q34) encodes the alpha 1 chain of type IV collagen, a crucial component of the basal membrane. COL4A1 mutations have been iden......

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