Associated Papers
Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy.
Mohammadi P et al.
Acta Neurologica Belgica, 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
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
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
Hehr U et al.
Neurogenetics, 2007
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