Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome

Autor: Pierce, Sarah B., Walsh, Tom, Chisholm, Karen M., Lee, Ming K., Thornton, Anne M., Fiumara, Agata, Opitz, John M., Levy-Lahad, Ephrat, Klevit, Rachel E., King, Mary-Claire
Zdroj: In The American Journal of Human Genetics 2010 87(2):282-288
Databáze: ScienceDirect