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12 Identificaciónes de Mutaciónes
/en Mutations /por sonjaHoy, son pues 12 mutaciones diferentes que han sido identificadas y provocan Cutis Laxa. Es por eso que la clasificación de Cutis Laxa pronto será revisada. Elastine (ELN) (2 mutationen) – ADCL Fibuline5 (FBLN5) – ARCL1A Fibuline4 (FBLN4) – ARCL1B LTBP4 – ARCL1C ATP6V0A2 – ARCL2A PYCR1 – ARCL2B ATP6V1E1 / ATP6V1A – ARCL2C ALDH18A1 […]