Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Autor: Sharer, J. Daniel, De Biase, Irene, Matern, Dietrich, Young, Sarah, Bennett, Michael J., Tolun, Adviye A.
Zdroj: In Genetics in Medicine December 2018 20(12):1499-1507
Databáze: ScienceDirect