Application | Comment | Organism |
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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 | UniProt | Comment | Textmining |
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Homo sapiens | - |
Middle European patients with congenital adrenal hyperplasia | - |
Source Tissue | Comment | Organism | Textmining |
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