Novel human pathological mutations. Gene symbol: CYP21A2. Disease: adrenal hyperplasia

Hum Genet. 2010 Apr;127(4):482-3.

Authors

B Carvalho¹, C J Marques, D Carvalho, A Barros, F Carvalho

Affiliation

¹ Department of Genetics, Faculty of Medicine, University of Porto, Porto, Portugal. bertalc@med.up.pt

PMID: 21488305

No abstract available

MeSH terms

Adrenal Hyperplasia, Congenital / genetics*
Amino Acid Substitution
Base Sequence
Codon / genetics
Humans
Mutation, Missense
Steroid 21-Hydroxylase / genetics*

Substances

Codon
CYP21A2 protein, human
Steroid 21-Hydroxylase