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Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.

Pubmed ID: 
32165008
Year: 
2020
Month: 
May
Volume: 
130
Issue: 
1
Citation: 
Davids M, Menezes M, Guo Y, McLean SD, Hakonarson H, Collins F, Worgan L, Billington CJ, Maric I, Littlejohn RO, Onyekweli T, Members Of The Udn , Adams DR, Tifft CJ, Gahl WA, Wolfe LA, Christodoulou J, Malicdan MCV. Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. Molecular genetics and metabolism 130 (1) : 49 - 57(2020) PubMed