Ling Su
Southern Medical University
2 Papers
Ling Su is an academic researcher from Southern Medical University. The author has contributed to research in topics: Mutation (genetic algorithm) & Multiplex ligation-dependent probe amplification. The author has an hindex of 2, co-authored 2 publications. Previous affiliations of Ling Su include Guangzhou Medical University.
Chat about Author
Papers
Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene.
TL;DR: DNA diagnosis played an important role in distinguishing between these two disorders, indicating that the multifunction of HSD10, especially neurosteroid metabolic activity, other than only enzymatic degradation of isoleucine, is involved in the pathogenesis of H SD10 deficiency.
18
Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China.
TL;DR: Sanger sequencing combined with MLPA method could detect most mutation types in the CYP21A2 gene effectively and confirm the common mutations in Chinese populations, especially in South China, which will contribute to further genetic consultation and prenatal diagnosis.