Publications by authors named "Nan-Ying Hu"
Mol Cell Endocrinol
March 2003
Article Synopsis
- Cytochrome P450c17 deficiency is a rare enzyme disorder affecting steroid biosynthesis, caused by mutations in the CYP17 gene and inherited in an autosomal recessive manner.
- Three sisters from a Chinese family were diagnosed with this deficiency, showcasing two different mutations as compound heterozygotes.
- The study identified one mutation as a heterozygous point mutation and the other as a nine-base pair deletion in the CYP17 gene, marking the first molecular genetic investigation of this deficiency in mainland China.
