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Volumn 85, Issue 3, 2000, Pages 1059-1065

Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOCORTICOID; HYDROCORTISONE; HYDROXYPROGESTERONE; MINERALOCORTICOID; PRASTERONE SULFATE; STEROID 21 MONOOXYGENASE; TESTOSTERONE;

EID: 0034452971     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jcem.85.3.6441     Document Type: Article
Times cited : (342)

References (33)
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    • Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): Implications for diagnosis, prognosis and treatment
    • (1998) Acta Paediatr , vol.87 , pp. 159-164
    • Wedell, A.1
  • 11
    • 0029934909 scopus 로고    scopus 로고
    • An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia
    • (1996) Hum Genet , vol.98 , pp. 182-184
    • Lajic, S.1    Wedell, A.2
  • 12
    • 0030953107 scopus 로고    scopus 로고
    • Novel nonsense mutation (W302X) in the steroid 21-hydroxylase gene of a Finnish patient with the salt-wasting form of congenital adrenal hyperplasia
    • (1997) Hum Mutat , vol.9 , pp. 363-365
    • Levo, A.1    Partanen, J.2
  • 26
    • 0032521672 scopus 로고    scopus 로고
    • The -104G nucleotide of the human CYP21 gene is important for CYP21 transcription activity and protein interaction
    • (1998) Nucleic Acids Res , vol.26 , pp. 1959-1964
    • Chin, K.K.1    Chang, S.F.2
  • 32
    • 0026707238 scopus 로고
    • The human complement C4B/steroid 21-hydroxylase (CYP21) and complement C4A/21-hydroxylase pseudogene (CYP21P) intergenic sequences: Comparison and identification of possible regulatory elements
    • (1992) Biochem Biophys Res Commun , vol.186 , pp. 256-262
    • Donohoue, P.A.1    Collins, M.M.2
  • 33
    • 0032602725 scopus 로고    scopus 로고
    • A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia. Mutation in brief no. 255. Online
    • (1999) Hum Mutat , vol.14 , pp. 90-91
    • Krone, N.1    Braun, A.2    Roscher, A.A.3    Schwarz, H.P.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.