Non-expression of a common mutation in the 21-hydroxylase gene: Implications for prenatal diagnosis and carrier testing

Journal of Medical Genetics

Volumn 33, Issue 9, 1996, Pages 798-799

  Rumsby, G ^a   Massoud, A F ^b   Avey, C ^c   Brook, C G D ^b  

^a UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

^b MIDDLESEX HOSPITAL   (United Kingdom)

^c ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

21 hydroxylase; Mutation; Non expression

Indexed keywords

FLUDROCORTISONE; HYDROCORTISONE; STEROID; STEROID 21 MONOOXYGENASE;

ARTICLE; BIOCHEMISTRY; CASE REPORT; CONTROLLED STUDY; FATHER; FEMALE; GENE EXPRESSION; GENE MUTATION; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMAN; INFANT; INTRON; NEWBORN; PATIENT CARE; PREGNANCY; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RISK; STEROID 21 MONOOXYGENASE DEFICIENCY;

EID: 0029743397     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.9.798     Document Type: Article

References (13)

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