Associated Papers
Structure of the eukaryotic protein O-mannosyltransferase Pmt1-Pmt2 complex.
Bai L et al.
Nature Structural & Molecular Biology, 2019
31285605 (PubMed )
Supplement: NIHMS1530499-supplement-2.pdf
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
Geis T et al.
Orphanet Journal of Rare Diseases, 2019
31311558 (PubMed )
Supplement: 13023_2019_1119_MOESM1_ESM.xlsx › POMT1_list_of_all_mutations
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
29158550 (PubMed )
Supplement: 41431_2017_22_MOESM6_ESM.xlsx › clinsig4or5_sameASpos
Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation.
Yang H et al.
Journal of Human Genetics, 2016
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