Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing
利用新一代测序技术检测高苯丙氨酸血症的单核苷酸和拷贝数缺陷
期刊:Biomedicines
影响因子:3.9
doi:10.3390/biomedicines11071899
Tendi, Elisabetta Anna; Morello, Giovanna; Guarnaccia, Maria; La Cognata, Valentina; Petralia, Salvatore; Messina, Maria Anna; Meli, Concetta; Fiumara, Agata; Ruggieri, Martino; Cavallaro, Sebastiano