Associated Papers
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
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
Hehr U et al.
Neurogenetics, 2007
Glycosylation in congenital muscular dystrophies.
Endo T et al.
Biological & Pharmaceutical Bulletin, 2003
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.
Yoshida A et al.
Developmental Cell, 2001
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