TY  - JOUR
AU  - Perdomo-Ramirez, Ana
AU  - Antón-Gamero, Montserrat
AU  - Rizzo, Daniela Sakaguchi
AU  - Trindade, Amelia
AU  - Ramos-Trujillo, Elena
AU  - Claverie-Martin, Felix
PY  - 2020
DO  - 10.5582/irdr.2020.03092
SN  - 2186-3644
UR  - https://hdl.handle.net/10668/26608
T2  - Intractable & rare diseases research
AB  - The oculocerebrorenal syndrome of Lowe is a rare X-linked disease characterized by congenital cataracts, proximal renal tubulopathy, muscular hypotonia and mental impairment. This disease is caused by mutations in the OCRL gene encoding membrane bound...
LA  - en
KW  - ASH domain
KW  - Lowe syndrome
KW  - OCRL
KW  - missense mutation
TI  - Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome.
TY  - research article
VL  - 9
ER  -