Associated Papers
POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
Endo T et al.
Methods in Enzymology, 2010
Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate.
Vajsar J et al.
Neuromuscular Disorders : Nmd, 2008
Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.
Manya H et al.
Neuromuscular Disorders : Nmd, 2008
Molecular heterogeneity in fetal forms of type II lissencephaly.
Bouchet C et al.
Human Mutation, 2007
Mutations of the POMT1 gene found in patients with Walker-Warburg syndrome lead to a defect of protein O-mannosylation.
Akasaka-Manya K et al.
Biochemical and Biophysical Research Communications, 2004
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