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Literature summary for 1.14.14.16 extracted from

  • Soardi, F.C.; Lemos-Marini, S.H.; Coeli, F.B.; Maturana, V.G.; Silva, M.D.; Bernardi, R.D.; Justo, G.Z.; de-Mello, M.P.
    Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening (2008), Arq. Bras. Endocrinol. Metabol., 52, 1388-1392.
    View publication on PubMed

Organism

Organism UniProt Comment Textmining
Homo sapiens
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-
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Synonyms

Synonyms Comment Organism
Steroid 21-hydroxylase
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Homo sapiens

General Information

General Information Comment Organism
malfunction steroid 21-hydroxylase deficiency accounts for more than 90% of congenital adrenal hyperplasia Homo sapiens