The oculocerebrorenal syndrome of Lowe The metabolic and molecular bases of inherited diseases, pp.6257-66, 2001. ,
Physical mapping and genomic structure of the Lowe syndrome gene OCRL1, Human Genetics, vol.99, issue.2, pp.145-50, 1997. ,
DOI : 10.1007/s004390050329
Mutations in OCRL1 gene in Indian children with Lowe syndrome, Clinical and Experimental Nephrology, vol.1, issue.5, pp.358-62, 2008. ,
DOI : 10.1007/s10157-008-0059-0
URL : https://hal.archives-ouvertes.fr/inserm-00381938
Prenatal diagnosis of Lowe syndrome by OCRL1 messenger RNA analysis, Prenatal Diagnosis, vol.92, issue.3, pp.269-70, 1999. ,
DOI : 10.1002/(SICI)1097-0223(199903)19:3<269::AID-PD519>3.0.CO;2-L
Characterization of a Germline Mosaicism in Families with Lowe Syndrome, and Identification of Seven Novel Mutations in the OCRL1 Gene, The American Journal of Human Genetics, vol.65, issue.1, pp.68-76, 1999. ,
DOI : 10.1086/302443
First report of prenatal biochemical diagnosis of Lowe syndrome, Prenatal Diagnosis, vol.92, issue.11, pp.1117-1138, 1998. ,
DOI : 10.1002/(SICI)1097-0223(199811)18:11<1117::AID-PD413>3.0.CO;2-Q