Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy

• मुख्य लेखकों: Hafiza Noor Ul Ayan (लेखक), Yvonne Nitschke (लेखक), Abdul Razzaq Mughal (लेखक), Holger Thiele (लेखक), Naveed Altaf Malik (लेखक), Ijaz Hussain (लेखक), Syed Muhammad Ijlal Haider (लेखक), Frank Rutsch (लेखक), Jeanette Erdmann (लेखक), Muhammad Tariq (लेखक), Zouhair Aherrahrou (लेखक), Ilyas Ahmad (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2024-11-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) plays a critical role by converting extracellular ATP to AMP, generating extracellular PPi, a potential inhibitor of calcification. Pathogenic variants in the ENPP1 cause generalized arterial calcification of infancy (GACI [OMIM 208...