Associated Papers
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen
Pathogenic mechanisms and clinical insights into B3GALNT2-related alpha-dystroglycanopathies.
Fu X et al.
Journal of Neuromuscular Diseases, 2025
Compound heterozygous B3GALNT2 mutations in a fetus with encephalocele: A case report.
Ling D et al.
Clinical Case Reports, 2024
Expanding the Phenotype of B3GALNT2-Related Disorders.
D'haenens E et al.
Genes, 2022
Congenital muscular dystrophy caused by beta1,3-N-acetylgalactosaminyltransferase 2 gene mutation: Two case reports.
Wu WJ et al.
World Journal of Clinical Cases, 2022
Novel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients.
Chen XY et al.
Chinese Medical Journal, 2020
Whole genome sequencing identified a 16 kilobase deletion on ECA13 associated with distichiasis in Friesian horses.
Hisey EA et al.
Bmc Genomics, 2020
Ruling out BGN variants as simple X-linked causative mutations for bilateral corneal stromal loss in Friesian horses.
Alberi C et al.
Animal Genetics, 2018
Genotyping of friesian horses to detect a hydrocephalus-associated c.1423C>T mutation in B3GALNT2 using PCR-RFLP and PCR-PIRA methods: Frequency in stallion horses in México.
Ayala-Valdovinos MA et al.
Molecular and Cellular Probes, 2017
A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses.
Ducro BJ et al.
Bmc Genomics, 2015
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.
Stevens E et al.
American Journal of Human Genetics, 2013
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