Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy.
ENPP1 基因纯合剪接位点变异是婴儿期全身性动脉钙化的原因
期刊:BMC Pediatrics
影响因子:2
doi:10.1186/s12887-024-05123-0
Noor Ul Ayan Hafiza, Nitschke Yvonne, Mughal Abdul Razzaq, Thiele Holger, Malik Naveed Altaf, Hussain Ijaz, Haider Syed Muhammad Ijlal, Rutsch Frank, Erdmann Jeanette, Tariq Muhammad, Aherrahrou Zouhair, Ahmad Ilyas
