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 |
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Zdroj: | In The American Journal of Human Genetics 2010 87(2):282-288 |
Databáze: | ScienceDirect |
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