Autosomal ‐dominant early‐onset spastic paraparesis with brain calcification due to IFIH1 gain‐of‐function

Human Mutation, EarlyView.

Source: Human Mutation - June 4, 2018 Category: Genetics & Stem Cells Authors: LyseRuaud , Gillian I.Rice , ChristelleCabrol , JuliettePiard , MathieuRodero , Lienvan Eyk , EliseBoucher ‐Brischoux , Alain Maertensde Noordhout , RicardoMaré , EmmanuelScalais , FernandPauly , François‐GuillaumeDebray , Source Type: research