Analysis of four common salt-wasting mutations in CYP21 (steroid 21- hydroxylase) by cleavase fragment length polymorphism analysis and characterization of a frequent polymorphism in intron 6

Molecular Diagnosis

Volumn 3, Issue 3, 1998, Pages 171-178

  Wei, Wan Li ^a   Killeen, Anthony A ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

Ehemiluminescence; Gene deletion; Mutation screening

Indexed keywords

STEROID 21 MONOOXYGENASE;

ARTICLE; CHEMOLUMINESCENCE; CONGENITAL ADRENAL HYPERPLASIA; ENZYME DEFICIENCY; GENE CLUSTER; GENE DELETION; GENE MUTATION; GENE SEGREGATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; INTRON; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SALT LOSING NEPHRITIS; SCREENING;

EID: 0031660999     PISSN: 10848592     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1084-8592(98)80036-2     Document Type: Article

References (3)

1. Pang S, Clark A: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Newborn screening and its relationship to the diagnosis and treatment of the disorder. Screening 1993;2:105-139
2. Pang S: Congenital adrenal hyperplasia. Endocrinol Metab Clin North Am 1997;26:853-891
3. White PC, Tusie-Luna M-T, New MI, Speiser PW: Mutations in steroid 21-hydroxylase (CYP21). Human Mutat 1994;3:373-378