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Novel immunodeficiency caused by homozygous mutation in solute carrier family 19 member 1, which encodes the reduced folate carrier.

Blood - 29 Jun 2023

Shiraishi Akira, Uygun Vedat, Sharfe Nigel, Beldar Serap, Sun Mark G F, Dadi Harjit, Vong Linda, Maxson Michelle, Karaca Neslihan E, Mevlitoğlu Süleyman, Grinstein Sergio, Artan Reha, Merico Daniele, Roifman Chaim M

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PMID: 36745868
DOI: 10.1182/blood.2022017968

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