Case report: 17α -hydroxylase deficiency due to a hotspot variant and a novel compound heterozygous variant in the cyp17a1 gene of five chinese patients

HIGHLIGHTS

• who: Lijun Liu from the Vydehi Institute of Medical Sciences and Research Centre, India have published the research: Case report: 17u03b1 -hydroxylase deficiency due to a hotspot variant and a novel compound heterozygous variant in the CYP17A1 gene of five Chinese patients, in the Journal: (JOURNAL)
• how: In kindred 3 the following compound heterozygous mutation of the CYP17A1 gene was identified c.1243+6T>G (splicing) c.

SUMMARY

Cytochrome P450 17α-hydroxylase (P450c17) is a polypeptide comprising of 508 amino_acids. In the first family, the index patient (patient 1) was a . . .

 



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