Literature summary for 3.1.3.36 extracted from

Roschinger, W.; Muntau, A.C.; Rudolph, G.; Roscher, A.A.; Kammerer, S.
Carrier assessment in families with Lowe oculocerebrorenal syndrome: Novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination (2000), Mol. Genet. Metab., 69, 213-222.

Search for more literature for 3.1.3.36

Application

Application	Comment	Organism
medicine	examination of patients with Lowe oculocerebrorenal syndrome, MIM 309000, and their families for mutations in enzyme gene	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	identification of mutants leading to Lowe oculocerebrorenal syndrome, MIM 309000	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

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Release 2023.1 (January 2023)