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A novel truncating mutation of cytochrome P4501B1 (CYP1B1) gene in primary infantile glaucoma

โœ Scribed by Tomoko Kakiuchi; Yasushi Isashiki; Kumiko Nakao; Shozo Sonoda; Katsuaki Kimura; Norio Ohba


Book ID
117020162
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
192 KB
Volume
128
Category
Article
ISSN
0002-9394

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Novel cytochrome P450 1B1 (CYP1B1) mutat
โœ Evelyne Colomb; Josseline Kaplan; Henri-Jean Garchon ๐Ÿ“‚ Article ๐Ÿ“… 2003 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 31 KB

The CYP1B1 gene (GenBank: U56438), a member of the cytochrome P450 gene family, has been shown to be mutated in patients with primary congenital glaucoma (PCG), a rare but severely blinding form of glaucoma. Here, we have investigated CYP1B1 mutations in 31 unrelated French PCG patients. Mutations w