| Literature DB >> 21596299 |
Arif O Khan1, Lama Al-Abdi, Jawahir Y Mohamed, Mohammed A Aldahmesh, Fowzan S Alkuraya.
Abstract
We describe siblings with familial primary juvenile glaucoma from a consanguineous Saudi Arabian family. The phenotype segregated with homozygous p.G61E CYP1B1 mutations while MYOC mutation was not detected, illustrating that mutations in CYP1B1 rather than mutation in MYOC can underlie familial primary juvenile glaucoma in certain populations.Entities:
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Year: 2011 PMID： 21596299 DOI： 10.1016/j.jaapos.2011.01.156
Source DB: PubMed Journal: J AAPOS ISSN： 1091-8531 Impact factor: 1.220