Listar (2016) Número Extra por autor "Jaka, Oihane"
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LGMD2A gaixotasunaren diagnostiko molekularra
Jaka, Oihane (Servicio Editorial de la Universidad del País Vasco/Euskal Herriko Unibertsitatearen Argitalpen Zerbitzua, 2016)Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder caused by mutations in the CAPN3 gene. This gene encodes a protein expressed in skeletal muscle called calpain 3. In the present work we ...