Targeted Screening for Predominant CYP1B1 Mutations in Primary Congenital Glaucoma

Overview

Journal J Ophthalmic Vis Res

Specialty Ophthalmology

Date 2018 Nov 28

PMID 30479704

Authors

Mansoor Sarfarazi

Affiliations

Soon will be listed here.

References

Sarfarazi M, Akarsu A, Hossain A, Turacli M, Aktan S, CHEVRETTE L . Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics. 1995; 30(2):171-7. DOI: 10.1006/geno.1995.9888. View

Stoilov I, Akarsu A, Sarfarazi M . Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet. 1997; 6(4):641-7. DOI: 10.1093/hmg/6.4.641. View

Chitsazian F, Tusi B, Elahi E, Saroei H, Sanati M, Yazdani S . CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes. J Mol Diagn. 2007; 9(3):382-93. PMC: 1899412. DOI: 10.2353/jmoldx.2007.060157. View

Lek M, Karczewski K, Minikel E, Samocha K, Banks E, Fennell T . Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016; 536(7616):285-91. PMC: 5018207. DOI: 10.1038/nature19057. View

Plasilova M, Stoilov I, Sarfarazi M, Kadasi L, Ferakova E, Ferak V . Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. J Med Genet. 1999; 36(4):290-4. PMC: 1734351. View