POMGNT1 gene

Known as: POMGNT1, FLJ20277, MGAT1.2 
 

Topic mentions per year

Topic mentions per year

2007-2017
02420072017

Papers overview

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2016
2016
A growing number of human diseases have been linked to defects in protein glycosylation that affects a wide range of organs… (More)
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2016
2016
PURPOSE To identify the genetic cause in five families with autosomal recessive retinitis pigmentosa, a genetic disorder… (More)
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2016
2016
PURPOSE The POMGNT1 gene, encoding protein O-linked-mannose β-1,2-N-acetylglucosaminyltransferase 1, is associated with muscle… (More)
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2015
2015
Dystroglycanopathies are neuromuscular disorders due to abnormal glycosylation of dystroglycan which is a cell-surface… (More)
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2012
2012
Limb-girdle muscular dystrophy type 2O (LGMD2O) belongs to a group of rare muscular dystrophies named dystroglycanopathies, which… (More)
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2011
2011
Dystroglycanopathies are a heterogeneous group of muscular dystrophies with autosomal recessive inheritance characterized by… (More)
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2009
2009
BACKGROUND Alpha-dystroglycanopathies are a group of congenital muscular dystrophies (CMDs) with autosomal recessive inheritance… (More)
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2008
2008
AbstractWalker-Warburg syndrome, muscle-eye-brain disease, Fukuyama congenital muscular dystrophy, congenital muscular dystrophy… (More)
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2008
2008
Walker-Warburg syndrome (WWS) is a genetically heterogeneous autosomal recessive disease characterized by congenital muscular… (More)
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2007
2007
Type II lissencephaly (type II LIS) is a group of autosomal recessive congenital muscular dystrophies (CMD) associated with… (More)
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