Literature summary for 1.14.14.16 extracted from

Dolzan, V.; Solyom, J.; Fekete, G.; Kovacs, J.; Rakosnikova, V.; Votava, F.; Lebl, J.; Pribilincova, Z.; Baumgartner-Parzer, S.M.; Riedl, S.; Waldhauser, F.; Frisch, H.; Stopar-Obreza, M.; Krzisnik, C.; Battelino, T.
Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia (2005), Eur. J. Endocrinol., 153, 99-106.

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Application

Application	Comment	Organism
medicine	molecular analysis of enzyme gene from Middle European patients with congenital adrenal hyperplasia. CYP21 enzyme gene deletion and In2 and I172N mutation account for 72.7% of the affected alleles in the whole study group. With exception of I172N and P30L mutations, a good genotype-phenotype correlation is observed. Using high-resulotion genotyping, the causative mutation could be identified in 341 out of 348 patients	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	Middle European patients with congenital adrenal hyperplasia	-

Source Tissue

Source Tissue	Comment	Organism	Textmining

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Release 2023.1 (January 2023)