메뉴 건너뛰기




Volumn 11, Issue , 2005, Pages 66-70

A compound heterozygous change found in Peters' anomaly

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYTOCHROME P450 1B1; LEUCINE; VALINE;

EID: 25444504573     PISSN: 10900535     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (23)

References (17)
  • 1
    • 0030942553 scopus 로고    scopus 로고
    • 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
    • Stoilov I, Akarsu AN, 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; 6:641-7.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 641-647
    • Stoilov, I.1    Akarsu, A.N.2    Sarfarazi, M.3
  • 4
    • 0037326520 scopus 로고    scopus 로고
    • Primary congenital glaucoma: A novel single-nucleotide deletion and varying phenotypic expression for the 1,546-1,555dup mutation in the GLC3A (CYP1B1) gene in 2 families of different ethnic origin
    • Soley GC, Bosse KA, Flikier D, Flikier P, Azofeifa J, Mardin CY, Reis A, Michels-Rautenstrauss KG, Rautenstrauss BW. Primary congenital glaucoma: a novel single-nucleotide deletion and varying phenotypic expression for the 1,546-1,555dup mutation in the GLC3A (CYP1B1) gene in 2 families of different ethnic origin. J Glaucoma 2003; 12:27-30.
    • (2003) J. Glaucoma , vol.12 , pp. 27-30
    • Soley, G.C.1    Bosse, K.A.2    Flikier, D.3    Flikier, P.4    Azofeifa, J.5    Mardin, C.Y.6    Reis, A.7    Michels-Rautenstrauss, K.G.8    Rautenstrauss, B.W.9
  • 7
    • 0002621289 scopus 로고
    • Uber angeboren defektbildung der descementschen membran
    • Peters A. Uber angeboren defektbildung der descementschen membran. Klin Monatsbl Augenheilkd 1906; 44:27-40.
    • (1906) Klin. Monatsbl. Augenheilkd. , vol.44 , pp. 27-40
    • Peters, A.1
  • 8
    • 0031798533 scopus 로고    scopus 로고
    • PAX 6 is normal in most cases of Peters' anomaly
    • Churchill AJ, Booth AP, Anwar R, Markham AF. PAX 6 is normal in most cases of Peters' anomaly. Eye 1998; 12:299-303.
    • (1998) Eye , vol.12 , pp. 299-303
    • Churchill, A.J.1    Booth, A.P.2    Anwar, R.3    Markham, A.F.4
  • 16
    • 0029781481 scopus 로고    scopus 로고
    • Structural alignments of P450s and extrapolations to the unknown
    • Graham-Lorence SE, Peterson JA. Structural alignments of P450s and extrapolations to the unknown. Methods Enzymol 1996; 272:315-26.
    • (1996) Methods Enzymol. , vol.272 , pp. 315-326
    • Graham-Lorence, S.E.1    Peterson, J.A.2
  • 17
    • 0035217151 scopus 로고    scopus 로고
    • Effect of two mutations of human CYP1B1, G61E and R469W, on stability and endogenous steroid substrate metabolism
    • Jansson I, Stoilov I, Sarfarazi M, Schenkman JB. Effect of two mutations of human CYP1B1, G61E and R469W, on stability and endogenous steroid substrate metabolism. Pharmacogenetics 2001; 11:793-801.
    • (2001) Pharmacogenetics , vol.11 , pp. 793-801
    • Jansson, I.1    Stoilov, I.2    Sarfarazi, M.3    Schenkman, J.B.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.