Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader–Willi Syndrome and Angelman Syndrome - Kim, Boram; Park, Yongsook; Cho, Sung Im; Kim, Man Jin; Chae, Jong-Hee; Kim, Ji Yeon; Seong, Moon-Woo; Park, Sung Sup (Annals of laboratory medicine, 2022)
Keywords: Angelman Syndrome - diagnosis; Angelman Syndrome - genetics; Chromosomes, Human, Pair 15 - genetics; DNA Methylation; Humans; Methylation; Multiplex Polymerase Chain Reaction; Original; Prader-Willi Syndrome - diagnosis; Prader-Willi Syndrome - genetics; Retrospective Studies; 병리학; Angelman syndrome; Utility; Diagnosis; Methylation-specific PCR; Prader-Willi syndrome; Methylation-specific multiplex ligation-dependent probe amplification