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Items: 9


An overview of molecular diagnosis of steroid 21-hydroxylase deficiency.

Keegan CE, Killeen AA.

J Mol Diagn. 2001 May;3(2):49-54. Review. No abstract available.


Prenatal diagnosis of inherited metabolic diseases.

Diukman R, Goldberg JD.

West J Med. 1993 Sep;159(3):374-81. Review.


Nonsense mutation causing steroid 21-hydroxylase deficiency.

Globerman H, Amor M, Parker KL, New MI, White PC.

J Clin Invest. 1988 Jul;82(1):139-44.


Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.

White PC, Vitek A, Dupont B, New MI.

Proc Natl Acad Sci U S A. 1988 Jun;85(12):4436-40.


Prenatal diagnosis of common genetic disorders.

Crawfurd MD.

BMJ. 1988 Aug 20-27;297(6647):502-6. Review. No abstract available.


Molecular forensics: applications, implications and limitations.

Hegele RA.

CMAJ. 1989 Oct 1;141(7):668-72. Review.


Prenatal diagnosis of enzyme defects.

Winchester B.

Arch Dis Child. 1990 Jan;65(1 Spec No):59-67. Review. No abstract available.


The Gordon Wilson Lecture. Congenital adrenal hyperplasia.

New MI.

Trans Am Clin Climatol Assoc. 1991;102:108-22. Review. No abstract available.


Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency.

Mornet E, Crété P, Kuttenn F, Raux-Demay MC, Boué J, White PC, Boué A.

Am J Hum Genet. 1991 Jan;48(1):79-88.

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