Identification of OCRL1 mutations in two taiwanese Lowe syndrome patients

Keyphrases

• Lowe Syndrome 100%
• OCRL1 100%
• OCRL Gene 100%
• Oculocerebrorenal Syndrome 66%
• Abnormal Splicing 33%
• Renal Tubular Dysfunction 33%
• Congenital Cataract 33%
• Inositol Phosphatase 33%

Biochemistry, Genetics and Molecular Biology

• Missense Mutation 100%
• Intron 50%
• Exon 50%
• Genetic Carrier 50%
• Heterozygote 50%
• Phosphatase 50%
• Inositol 50%