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Novel Homozygous CYP1B1 Deletion in Siblings with Primary Congenital Glaucoma

✍ Scribed by Damjanovich, Kristy; Baldwin, Erin E.; Lewis, Tracey; Bayrak-Toydemir, Pinar


Book ID
121083614
Publisher
Informa plc
Year
2012
Tongue
English
Weight
211 KB
Volume
34
Category
Article
ISSN
1381-6810

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Novel cytochrome P450 1B1 (CYP1B1) mutat
✍ Evelyne Colomb; Josseline Kaplan; Henri-Jean Garchon πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 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