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Volumn 43, Issue 6, 2002, Pages 1820-1827

Molecular genetics of primary congenital glaucoma in Brazil

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 1B1;

EID: 0036272051     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (116)

References (38)
  • 4
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    • Epidemiology and genetics of primary congenital glaucoma in Slovakia: Description of a form of primary congenital glaucoma in gypsies with autosomal recessive inheritance and complete penetrance
    • (1989) Dev Ophthalmol , vol.16 , pp. 75-115
    • Gencik, A.1
  • 14
    • 0030942553 scopus 로고    scopus 로고
    • Identification of three different truncating mutations in the cytochrome P4501B1 (CYP1B1) gene as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21
    • (1997) Hum Mol Gen , vol.6 , pp. 641-647
    • Stoilov, I.1    Akarsu, A.N.2    Sarfarazi, M.3
  • 20
  • 21
    • 17344368983 scopus 로고    scopus 로고
    • Sequence analysis and homology modelling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1
    • (1998) Am J Hum Genet , vol.62 , pp. 573-584
    • Stoilov, I.1    Akarsu, A.N.2    Alozie, I.3
  • 22
    • 0034639693 scopus 로고    scopus 로고
    • Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus
    • (2000) Hum Mol Genet , vol.9 , pp. 367-374
    • Bejjani, B.A.1    Stockton, D.W.2    Lewis, R.A.3
  • 27
    • 0026527758 scopus 로고
    • Pattern-induced multi sequence alignment (PIMA) algorithm employing secondary structure-dependent gap penalties for comparative protein modeling
    • (1992) Prot Eng , vol.5 , pp. 35-41
    • Smith, R.F.1    Smith, T.F.2
  • 36
    • 0034526629 scopus 로고    scopus 로고
    • Human CYP1B1 Leu432Val gene polymorphism: Ethnic distribution in African-Americans, Caucasians and Chinese; oestradiol hydroxylase activity; and distribution in prostate cancer cases and controls
    • (2000) Pharmacogenetics , vol.10 , pp. 761-766
    • Tang, Y.M.1    Green, B.L.2    Chen, G.F.3
  • 38
    • 0035360270 scopus 로고    scopus 로고
    • Association of CYP1B1 codon 432 mutant allele in head and neck squamous cell cancer is reflected by somatic mutations of p53 in tumor tissue
    • (2001) Cancer Res , vol.61 , pp. 4398-4404
    • Ko, Y.1    Abel, J.2    Harth, V.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.