메뉴 건너뛰기




Volumn 11, Issue 3, 2003, Pages 124-128

Common CYP21 gene mutations in Czech patients and statistical analysis of worldwide mutation distribution

Author keywords

21 hydroxylase deficiency; Comparison among regions; CYP21 gene; Frequency of mutations; Genotype; Phenotype

Indexed keywords

OLIGONUCLEOTIDE; STEROID 21 MONOOXYGENASE;

EID: 0141565468     PISSN: 12107778     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (12)

References (25)
  • 1
    • 0034454269 scopus 로고    scopus 로고
    • Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    • White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000; 21: 245-291
    • (2000) Endocr Rev , vol.21 , pp. 245-291
    • White, P.C.1    Speiser, P.W.2
  • 3
    • 0029961205 scopus 로고    scopus 로고
    • Extraction of DNA using guanidine hydrochloride method and storage of DNA samples
    • Průša R, Vošmik M: Extraction of DNA using guanidine hydrochloride method and storage of DNA samples. Klin Biochem Metab 1996;4(25): 233-236.
    • (1996) Klin Biochem Metab , vol.4 , Issue.25 , pp. 233-236
    • Průša, R.1    Vošmik, M.2
  • 4
    • 0030944111 scopus 로고    scopus 로고
    • Rapid screening method for detecting mutations in the 21-hydroxylase gene
    • Oriola J, Plensa I, Machuca, I, Pavia C, Rivera-Fillat, F: Rapid screening method for detecting mutations in the 21-hydroxylase gene. Clin Chem 1997; 43 (4): 557-561.
    • (1997) Clin Chem , vol.43 , Issue.4 , pp. 557-561
    • Oriola, J.1    Plensa, I.2    Machuca, I.3    Pavia, C.4    Rivera-Fillat, F.5
  • 6
    • 0030901649 scopus 로고    scopus 로고
    • Mutation- haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Omplications for the population history of defective alleles
    • Levo A, Partanen J: Mutation- haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Omplications for the population history of defective alleles. Hum Genet 1997; 99: 488-497
    • (1997) Hum Genet , vol.99 , pp. 488-497
    • Levo, A.1    Partanen, J.2
  • 7
    • 0034452971 scopus 로고    scopus 로고
    • Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from Southern Germany
    • Krone N, Braun A, Roscher AA, Knorr D, Schwarz HP: Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from Southern Germany. J Clin Endocr Metab 2000; 85: 1059-1065.
    • (2000) J Clin Endocr Metab , vol.85 , pp. 1059-1065
    • Krone, N.1    Braun, A.2    Roscher, A.A.3    Knorr, D.4    Schwarz, H.P.5
  • 9
    • 0028208951 scopus 로고
    • Mutational spectrum of steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestation
    • Wedell A, Thilén A, Ritzén EM, Stengler B, Luthman H: Mutational spectrum of steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestation. J Clin Endocr Metab 1994; 78: 1145-1151.
    • (1994) J Clin Endocr Metab , vol.78 , pp. 1145-1151
    • Wedell, A.1    Thilén, A.2    Ritzén, E.M.3    Stengler, B.4    Luthman, H.5
  • 10
    • 0029075631 scopus 로고
    • Analysis of steroid 21-hydroxylase gene mutations in the Spanish population
    • Ezquieta B, Oliver A, Garcia R, Gancedo PG: Analysis of steroid 21-hydroxylase gene mutations in the Spanish population. Hum Genet 1995; 96: 98-204.
    • (1995) Hum Genet , vol.96 , pp. 98-204
    • Ezquieta, B.1    Oliver, A.2    Garcia, R.3    Gancedo, P.G.4
  • 11
    • 0141704649 scopus 로고    scopus 로고
    • Mutations spectrum of 21-hydroxylase gene in Egypt
    • Fawaz L, Peter M, Ghaly I, Hafez M, Sippel WG: Mutations spectrum of 21-hydroxylase gene in Egypt. Horm. Res 1997; 48 (suppl 2): 97.
    • (1997) Horm Res , vol.48 , Issue.SUPPL. 2 , pp. 97
    • Fawaz, L.1    Peter, M.2    Ghaly, I.3    Hafez, M.4    Sippel, W.G.5
  • 12
    • 0344085885 scopus 로고    scopus 로고
    • Steroid 21-hydroxylase deficiency: Mutational spectrum in Denmark, three novel mutations and in vitro analysis
    • Ohlsson G, Muller J, Skakkbaek NE, Schwartz M: Steroid 21-hydroxylase deficiency: Mutational spectrum in Denmark, three novel mutations and in vitro analysis. Hum Mutat 1999; 13 (6): 482-486.
    • (1999) Hum Mutat , vol.13 , Issue.6 , pp. 482-486
    • Ohlsson, G.1    Muller, J.2    Skakkbaek, N.E.3    Schwartz, M.4
  • 13
    • 0029858384 scopus 로고    scopus 로고
    • Point mutations in Italian patients with classic, non-classic and cryptic forms of steroid 21-hydroxylase deficiency
    • Carrera P, Bordone L, Azzani T, Brunelli V, Garancini MP, Chiumello G, Ferrari M: Point mutations in Italian patients with classic, non-classic and cryptic forms of steroid 21-hydroxylase deficiency. Hum Genet 1996; 98: 662-665.
    • (1996) Hum Genet , vol.98 , pp. 662-665
    • Carrera, P.1    Bordone, L.2    Azzani, T.3    Brunelli, V.4    Garancini, M.P.5    Chiumello, G.6    Ferrari, M.7
  • 14
    • 0035117969 scopus 로고    scopus 로고
    • Molecular characterization of mutations in Indian children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    • Mathur R, Menon PS, Kabra M, Goyal RK, Verma IC: Molecular characterization of mutations in Indian children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, J Pediatr Endocrinol. Metab 2001; 14: 27-35
    • (2001) J Pediatr Endocrinol Metab , vol.14 , pp. 27-35
    • Mathur, R.1    Menon, P.S.2    Kabra, M.3    Goyal, R.K.4    Verma, I.C.5
  • 16
    • 0034454685 scopus 로고    scopus 로고
    • Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia caused by steroid 21-hydroxylase deficiency in Chinese
    • Lee HH, Kuo JM, Chao HT, Lee YJ, Chang JG, Tsai CH, Chung BC: Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia caused by steroid 21-hydroxylase deficiency in Chinese. J Clin Endocr Metab 2000; 85: 597-600.
    • (2000) J Clin Endocr Metab , vol.85 , pp. 597-600
    • Lee, H.H.1    Kuo, J.M.2    Chao, H.T.3    Lee, Y.J.4    Chang, J.G.5    Tsai, C.H.6    Chung, B.C.7
  • 17
    • 0031910562 scopus 로고    scopus 로고
    • Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): Implications for diagnosis, prognosis and treatment
    • Wedell A: Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment. Acta Paediatr 1998; 87: 159-164
    • (1998) Acta Paediatr , vol.87 , pp. 159-164
    • Wedell, A.1
  • 20
    • 0030983249 scopus 로고    scopus 로고
    • Mutations of the steroid 21-hydroxylase in argentinian population of 36 patients with classical congenital adrenal hyperplasia
    • Dardis A, Bergada I, Bergada C, Rivarola A, Belgorsky A: Mutations of the steroid 21-hydroxylase in argentinian population of 36 patients with classical congenital adrenal hyperplasia. J Pediatr Endocrinol Metab 1997; 10: 55-61.
    • (1997) J Pediatr Endocrinol Metab , vol.10 , pp. 55-61
    • Dardis, A.1    Bergada, I.2    Bergada, C.3    Rivarola, A.4    Belgorsky, A.5
  • 22
    • 0033028438 scopus 로고    scopus 로고
    • Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis
    • Lako M, Ramsden S, Campbell RD, Strachan T: Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis. J Med Genet 1999; 36: 119-124.
    • (1999) J Med Genet , vol.36 , pp. 119-124
    • Lako, M.1    Ramsden, S.2    Campbell, R.D.3    Strachan, T.4
  • 24
    • 0029034192 scopus 로고
    • Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene
    • Wilson RC, Wei J, Cheng KC, Mercado AB, New MI: Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene. J Clin. Endocrinol Metab 1995; 80: 1635-1640.
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 1635-1640
    • Wilson, R.C.1    Wei, J.2    Cheng, K.C.3    Mercado, A.B.4    New, M.I.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.