Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia
CNGA3 相关常染色体隐性全色盲患者父系单亲 2 号染色体异体性
期刊:International Journal of Molecular Sciences
影响因子:0.7
doi:10.3390/ijms22157842
Susanne Kohl, Britta Baumann, Francesca Dassie, Anja K Mayer, Maria Solaki, Peggy Reuter, Laura Kühlewein, Bernd Wissinger, Pietro Maffei