Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism. [PDF]
, 1993 Toshihiro Tajima +3 more
openalex +1 more source
Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease. [PDF]
, 1998 Antonio Ulises López-Gutierrez +5 more
openalex +1 more source
CH-8 Phenotype in Steroid 21-Hydroxylase Deficiency: Fact or Fancy? [PDF]
, 2012 Hsien-Hsiung Lee
openalex +1 more source
Determination of 14 steroid hormones in amniotic fluid (AF): its usefulness in the antenatal diagnosis of 21-hydroxylase deficiency [PDF]
, 1981 Maguelone G. Forest +4 more
openalex +1 more source
Nonisotopic detection of point mutations in CYP21B gene in steroid 21-hydroxylase deficiency [PDF]
, 1996 Begoña Ezquieta +4 more
openalex +1 more source
Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively. [PDF]
, 1991 Da Wu, Bon‐chu Chung
openalex +1 more source
STEROID 21-HYDROXYLASE GENE ANALYSIS IN CONGENITAL ADRENAL HYPERPLASIA [PDF]
, 1987 John A. Phillips +3 more
openalex +1 more source