A novel mutation in the N-terminal region of the CYP17A1 gene in a patient with 17 alpha-hydroxylase/17,20-lyase deficiency.

Nuzzo, V; Tauchmanova, L; Brunetti-Pierri, R; Zuccoli, A; Lupoli, G; Colao, A; Brunetti-Pierri, N

Nuzzo, V; Tauchmanova, L; Brunetti-Pierri, R; Zuccoli, A; Lupoli, G; Colao, A; Brunetti-Pierri, N.

Affiliation

Nuzzo V; Internal Medicine Unit, S. Gennaro Hospital, Via San Gennaro dei Poveri 25, 80136 Napoli, Italy. vincenzo.nuzzo@libero.it

J Endocrinol Invest ; 32(4): 322-4, 2009 Apr.

Article in En | MEDLINE | ID: mdl-19636199

Subject(s)

Adrenal Hyperplasia, Congenital/genetics; Amenorrhea/genetics; Hypertension/genetics; Hypokalemia/genetics; Mutation, Missense/genetics; Steroid 17-alpha-Hydroxylase/genetics; Adrenal Hyperplasia, Congenital/enzymology; Adult; Amino Acid Substitution; DNA Mutational Analysis; DNA Primers/chemistry; DNA Primers/genetics; Female; Homozygote; Humans; Muscular Diseases; Steroid 17-alpha-Hydroxylase/metabolism

Search on Google

XML

PubMed Links

Database: MEDLINE Main subject: Steroid 17-alpha-Hydroxylase / Adrenal Hyperplasia, Congenital / Mutation, Missense / Amenorrhea / Hypertension / Hypokalemia Limits: Adult / Female / Humans Language: En Year: 2009 Type: Article

Search on Google

XML

PubMed Links