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A Novel CYP1B1 Mutation with Congenital Glaucoma and Total Aniridia

โœ Scribed by Alzuhairy, Sultan; Abu-Amero, Khaled K.; Al-Shahwan, Sami; Edward, Deepak P.


Book ID
121293565
Publisher
Informa plc
Year
2013
Tongue
English
Weight
168 KB
Volume
36
Category
Article
ISSN
1381-6810

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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