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CYP1B1, MYOC, and LTBP2 Mutations in Primary Congenital Glaucoma Patients in the United States

โœ Scribed by Lim, Sing-Hui; Tran-Viet, Khanh-Nhat; Yanovitch, Tammy L.; Freedman, Sharon F.; Klemm, Thomas; Call, Whitney; Powell, Caldwell; Ravichandran, Ajay; Metlapally, Ravikanth; Nading, Erica B.; Rozen, Steve; Young, Terri L.


Book ID
120512448
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
585 KB
Volume
155
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