Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
PEX13 相关泽尔韦格谱系障碍的基因型-表型相关性和疾病机制
期刊:Orphanet Journal of Rare Diseases
影响因子:3.4
doi:10.1186/s13023-022-02415-5
Paola Borgia #, Simona Baldassari #, Nicoletta Pedemonte, Ebba Alkhunaizi, Gianluca D'Onofrio, Domenico Tortora, Elisa Calì, Paolo Scudieri, Ganna Balagura, Ilaria Musante, Maria Cristina Diana, Marina Pedemonte, Maria Stella Vari, Michele Iacomino, Antonella Riva, Roberto Chimenz, Giuseppe D Mangan