Title : Mutation spectrum of the CYP1B1 gene for congenital glaucoma in the Japanese population.

Pub. Date : 2010 Jan

PMID : 20151268






3 Functional Relationships(s)
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1 The aim of this study was to determine the spectrum and role of the CYP1B1 gene in Japanese patients with PCG or JOAG. pcg cytochrome P450 family 1 subfamily B member 1 Homo sapiens
2 RESULTS: Mutational screening and sequence analyses of the CYP1B1 gene revealed four mutations in four patients with PCG: p.Asp192Val, c.4776insAT, p.Val364Met, and p.Asp430Glu. pcg cytochrome P450 family 1 subfamily B member 1 Homo sapiens
3 CONCLUSIONS: PCG in approximately 20% of Japanese patients may be associated with CYP1B1 mutations, but JOAG is not. pcg cytochrome P450 family 1 subfamily B member 1 Homo sapiens