Structure–function analysis of human protein O-linked mannose β1,2-N-acetylglucosaminyltransferase 1, POMGnT1
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry,Biophysics
Reference25 articles.
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1. Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease;Frontiers in Genetics;2023-06-05
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3. Compound variants of FKTN , POMGNT1 , and LAMB1 gene identified by prenatal whole‐exome sequencing in three fetuses with congenital hydrocephalus;Journal of Obstetrics and Gynaecology Research;2022-07-17
4. Molecular Mechanisms and Risk Factors for the Pathogenesis of Hydrocephalus;Frontiers in Genetics;2022-01-03
5. Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy;Acta Neurologica Belgica;2020-11-11
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