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searching for POMGNT1 4 found (10 total)

alternate case: pOMGNT1

Muscle–eye–brain disease (3,538 words) [view diff] case mismatch in snippet view article find links to article

abnormalities. The condition is degenerative. MEB is caused by mutations in the POMGnT1 gene, it is congenital and inherited as an autosomal recessive disorder

Pikachurin (1,298 words) [view diff] case mismatch in snippet view article find links to article

dystrophy patients. The muscle-eye-brain dystrophy is caused by mutations in POMGnT1 or LARGE. These two genes mediated a post-translational modification on

MGAT5B (920 words) [view diff] case mismatch in snippet view article find links to article

levels of two enzymes in the O-mannosyl-linked glycosylation pathway, PomGnT1 and GnT-Vb". Exp. Cell Res. 312 (15): 2837–2850. doi:10.1016/j.yexcr.2006

List of neuromuscular disorders (899 words) [view diff] case mismatch in snippet view article find links to article

anoctamin5-related LGMD R13 Fukutin-related LGMD R14 POMT2-related LGMD R15 POMGnT1-related LGMD R16 α-dystroglycan-related LGMD R17 plectin-related LGMD R18