Congenital adrenal hyperplasia

Clinical Biochemistry

Volumn 44, Issue 7, 2011, Pages 505-506

  Wedell, Anna ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

21 hydroxylase; CAH; CYP21A2; Genotyping; Pseudogene

Indexed keywords

STEROID 21 MONOOXYGENASE;

ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; PRIORITY JOURNAL;

17-ALPHA-HYDROXYPROGESTERONE; ADRENAL GLANDS; ADRENAL HYPERPLASIA, CONGENITAL; BIOLOGICAL MARKERS; BLOTTING, SOUTHERN; CHOLESTEROL; EXONS; GENES, RECESSIVE; HUMANS; HYDROCORTISONE; INFANT, NEWBORN; INTRONS; ISOENZYMES; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; NEONATAL SCREENING; SEVERITY OF ILLNESS INDEX; STEROID 21-HYDROXYLASE;

EID: 79955150443     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2011.02.026     Document Type: Article

References (5)

1. Wedell A., Luthman H. Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations. Hum Mol Genet 1993, 2:499-504.
2. Nordenstrom A., Thilén A., Hagenfeldt L., Larsson A., Wedell A. Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. J Clin Endocrinol Metab 1999, 84:1505-1509.
3. Speiser P.W., Dupont J., Zhu D., Serrat J., Buegeleisen M., Tusie-Luna M.-T., et al. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 1992, 90:584-595.
4. Wedell A., Thilén A., Ritzén E.M., Stengler B., Luthman H. Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation. J Clin Endocrinol Metab 1994, 78:1145-1152.
5. Krone N., Braun A., Roscher A.A., Knorr D., Schwarz H.P. Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from Southern Germany. J Clin Endocrinol Metab 2000, 85:1059-1065.