CYP1B1 Mutations in South Korean Patients With Primary Congenital Glaucoma : Genotype - Phenotype Correlations

被引：0
|
作者：
Suh, W. [1 ]
Kook, M. S. [2 ]
Kim, Y. Y. [3 ]
Kim, C. Y. [4 ]
Kim, C. S. [5 ]
Park, K. H. [6 ]
Park, C. K. [7 ]
Kim, H. J. [8 ]
Ki, C. S. [8 ]
Kee, C. [1 ]
机构：
[1] Sungkyunkwan Univ, Coll Med, Samsung Med Ctr, Dept Ophthalmol, Seoul, South Korea
[2] Univ Ulsan, Asan Med Ctr, Dept Ophthalmol, Seoul, South Korea
[3] Korea Univ, Coll Med, Dept Ophthalmol, Seoul, South Korea
[4] Yonsei Univ, Coll Med, Dept Ophthalmol, Seoul, South Korea
[5] Chungnam Natl Univ Hosp, Dept Ophthalmol, Daejon, South Korea
[6] Seoul Natl Univ, Coll Med, Dept Ophthalmol, Seoul, South Korea
[7] Catholic Univ Korea, Coll Med, Dept Ophthalmol & Visual Sci, Seoul, South Korea
[8] Sungkyunkwan Univ, Coll Med, Samsung Med Ctr, Dept Lab Med & Genet, Seoul, South Korea
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2010年 / 51卷 / 13期
关键词：
gene screening; clinical (human) or epidemiologic studies: prevalence/incidence; clinical (human) or epidemiologic studies: natural history;
D O I：
暂无
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
2163
引用
收藏
页数：2
相关论文
共 50 条
  • [31] Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma
    Micheal, Shazia
    Ayub, Humaira
    Zafar, Saemah N.
    Bakker, Bjorn
    Ali, Mahmood
    Akhtar, Farah
    Islam, Farrah
    Khan, Muhammad I.
    Qamar, Raheel
    den Hollander, Anneke I.
    CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2015, 43 (01): : 31 - 39
  • [32] Congenital Glaucoma CYP1B1 Mutations in Israeli Bedouin Kindreds
    Bar-Yosef, Udy
    Levy, Jaime
    Elbedour, Khalil
    Ofir, Rivka
    Carmi, Rivka
    Birk, Ohad S.
    JOURNAL OF GLAUCOMA, 2010, 19 (01) : 35 - 38
  • [33] Novel mutations and polymorphism of CYP1B1 in Ecuadorian patients with congenital glaucoma.
    Curry, SM
    Daou, AG
    Molinari, A
    Lewis, RA
    Bejjani, BA
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 625 - 625
  • [34] A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent
    Rauf B.
    Irum B.
    Kabir F.
    Firasat S.
    Naeem M.A.
    Khan S.N.
    Husnain T.
    Riazuddin S.
    Akram J.
    Amer Riazuddin S.
    Human Genome Variation, 3 (1)
  • [35] Molecular screening for CYP1B1 gene mutations and phenotypic variability in Mexican primary congenital glaucoma patients
    de Rivera, ON
    Rodríguez, S
    Vázquez, O
    Morán, V
    Korder, V
    Hartlebem, K
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2004, 45 : U438 - U438
  • [36] Clinical Variability of Primary Congenital Glaucoma in a Spanish Family With Cyp1b1 Gene Mutations
    Morales-Fernandez, Laura
    Martinez-de-la-Casa, Jose M.
    Garcia-Bella, Javier
    Mendez, Carmen
    Saenz-Frances, Federico
    Garcia, Maite
    Escribano, Julio
    Garcia-Feijoo, Julian
    JOURNAL OF GLAUCOMA, 2015, 24 (08) : 630 - 634
  • [37] Molecular analysis of the CYP1B1 gene:: Identification of novel truncating mutations in patients with primary congenital glaucoma
    Messina-Baas, O. M.
    Gonzalez-Huerta, L. M.
    Chima-Galan, C.
    Kofman-Alfaro, S. H.
    Rivera-Vega, M. R.
    Babayan-Mena, I.
    Cuevas-Covarrubias, S. A.
    OPHTHALMIC RESEARCH, 2007, 39 (01) : 17 - 23
  • [38] Biochemical and structural properties of four CYP1B1 mutations present in primary congenital glaucoma (PCG) patients
    Choudhary, Dharamainder
    Jonsson, Ingela
    Sarfarazi, Mansoor
    Schenkman, John B.
    FASEB JOURNAL, 2008, 22
  • [39] CYP1B1, MYOC, and LTBP2 Mutations in Primary Congenital Glaucoma Patients in the United States
    Lim, Sing-Hui
    Khanh-Nhat Tran-Viet
    Yanovitch, Tammy L.
    Freedman, Sharon F.
    Klemm, Thomas
    Call, Whitney
    Powell, Caldwell
    Ravichandran, Ajay
    Metlapally, Ravikanth
    Nading, Erica B.
    Rozen, Steve
    Young, Terri L.
    AMERICAN JOURNAL OF OPHTHALMOLOGY, 2013, 155 (03) : 508 - 517
  • [40] Variable Expressivity and High Penetrance of CYP1B1 Mutations Associated with Primary Congenital Glaucoma
    Suri, Fatemeh
    Yazdani, Shahin
    Narooie-Nejhad, Mehrnaz
    Zargar, Seyed Jalal
    Paylakhi, Seyed Hassan
    Zeinali, Sirous
    Pakravan, Mohammad
    Elahi, Elahe
    OPHTHALMOLOGY, 2009, 116 (11) : 2101 - 2109
12345