A novel missense mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.

• Authors: N Katsumata, A Tanae, T Yasunaga, R Horikawa, T Tanaka, I Hibi
• Journal: Human molecular genetics (Hum Mol Genet) Vol. 4 Issue 4 Pg. 745-6 (Apr 1995) ISSN: 0964-6906 [Print] England
• PMID: 7633426 (Publication Type: Journal Article)

Chemical References

• DNA
• 3-Hydroxysteroid Dehydrogenases

Topics

• 3-Hydroxysteroid Dehydrogenases (deficiency, genetics)
• Adrenal Hyperplasia, Congenital (genetics)
• Amino Acid Sequence
• Animals
• Base Sequence
• DNA
• Family Health
• Female
• Humans
• Male
• Molecular Sequence Data
• Mutation