POMT1 gene

Known as: ROTATED ABDOMEN, DROSOPHILA, HOMOLOG OF, dolichyl-phosphate-mannose-protein mannosyltransferase, PROTEIN O-MANNOSYLTRANSFERASE 1 
 
National Institutes of Health

Papers overview

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2017
2017
Muscular dystrophy-dystroglycanopathy (MDDG) is a genetically and clinically heterogeneous group of muscular disorders… (More)
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2016
2016
Protein O-mannosylation is an essential post-translational modification. It is initiated in the endoplasmic reticulum by a family… (More)
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2016
2016
Alpha-dystroglycanopathies are a heterogenic group of human rare diseases that have in common defects of α-dystroglycan O… (More)
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2014
2014
Mutations in POMT1 lead to a group of neuromuscular conditions ranging in severity from Walker–Warburg syndrome to limb girdle… (More)
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2014
2014
Mutations in POMT1 lead to a group of neuromuscular conditions ranging in severity from Walker-Warburg syndrome to limb girdle… (More)
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2014
2014
We report two siblings of Croatian consanguineous healthy parents with a novel homozygous missense mutation in the POMT1 gene… (More)
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2010
2010
Alpha-dystroglycanopathies are a group of rare inherited neuromuscular disorders characterized by reduced glycosylation of alpha… (More)
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2008
2008
Mutations in POMT1 and POMT2 genes were originally identified in Walker-Warburg syndrome (WWS) and subsequently reported in… (More)
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2005
2005
Walker-Warburg syndrome (WWS) is an autosomal recessive disorder of infancy characterized by hydrocephalus, agyria, retinal… (More)
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1999
1999
We have isolated a human gene homologous to Drosophila melanogaster rotated abdomen, rt, a poorly viable recessive mutation… (More)
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