Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome
Perdomo-Ramirez, Ana, Antón-Gamero, Montserrat, Rizzo, Daniela Sakaguchi, Trindade, Amelia, Ramos-Trujillo, Elena, Claverie-Martin, Felix
Published in Intractable & Rare Diseases Research (01.11.2020)
Published in Intractable & Rare Diseases Research (01.11.2020)
Get full text
Journal Article
Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome
Perdomo-Ramirez, Ana, Antón-Gamero, Montserrat, Rizzo, Daniela Sakaguchi, Trindade, Amelia, Ramos-Trujillo, Elena, Claverie-Martin, Felix
Published in Intractable & Rare Diseases Research (2020)
Published in Intractable & Rare Diseases Research (2020)
Get full text
Journal Article