Associated Papers
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.
Song D et al.
Clinical Genetics, 2021
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
28957316 (PubMed )
Supplement: pgen.1006915.s002.xlsx › Table_S2
Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.
Wang NH et al.
Investigative Ophthalmology & Visual Science, 2016
Golgi phosphoprotein 3 mediates the Golgi localization and function of protein O-linked mannose β-1,2-N-acetlyglucosaminyltransferase 1.
Pereira NA et al.
The Journal of Biological Chemistry, 2014
Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.
Voglmeir J et al.
The Biochemical Journal, 2011
Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.
Manya H et al.
Neuromuscular Disorders : Nmd, 2008
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
Hehr U et al.
Neurogenetics, 2007
Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1.
Akasaka-Manya K et al.
Biochemical and Biophysical Research Communications, 2004
Select a paper to view details