Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser))
婴儿全身动脉钙化 1 型 (GACI1):鉴定一种新型致病变异 (c.1715T>C (p.Leu572Ser))
期刊:Diagnostics
影响因子:
doi:10.3390/diagnostics11061034
Gaetano Pietro Bulfamante, Laura Carpenito, Emma Bragantini, Silvia Graziani, Maria Bellizzi, Christoph Peter Bagowski, Moneef Shoukier, Francesca Rivieri, Massimo Soffiati, Mattia Barbareschi