A case report of genetic analysis in the OCRL1 gene in Lowe syndrome.
- Author:
Fang JIANG
;
Yan GAO
;
Zhi-ying OU
- Publication Type:Case Reports
- MeSH:
Child;
Codon, Nonsense;
genetics;
DNA Mutational Analysis;
DNA Primers;
genetics;
Dent Disease;
diagnosis;
genetics;
Exons;
genetics;
Humans;
Infant;
Male;
Mutation;
Oculocerebrorenal Syndrome;
diagnosis;
genetics;
Phosphoric Monoester Hydrolases;
genetics;
Polymerase Chain Reaction
- From:
Chinese Journal of Pediatrics
2012;50(9):708-709
- CountryChina
- Language:Chinese