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

PURPOSE: To screen primary congenital glaucoma patients in the United States for sequence variants within the CYP1B1, LTBP2, and MYOC genes using Sanger and whole exome sequencing. DESIGN: Retrospective case-control study. METHODS: Fifty-seven primary congenital glaucoma patients (47 families), 71 u...

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主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: 2012
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3736560/
https://ncbi.nlm.nih.gov/pubmed/23218701
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajo.2012.09.012
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