Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
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
Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.
Hu P et al.
Journal of Cellular and Molecular Medicine, 2017
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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