GMPPB gene

Known as: GMPP-BETA, GDP-mannose pyrophosphorylase B, GMPPB 
 
National Institutes of Health

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Topic mentions per year

2014-2017
02420142017

Papers overview

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2017
2017
Mutations in GMPPB gene have been reported in patients with early-onset disease ranging from severe congenital muscular… (More)
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2017
2017
INTRODUCTION Mutations in the guanosine diphosphate-mannose pyrophosphorylase-B gene (GMPPB) have been identified in congenital… (More)
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Review
2017
Review
2017
Mutations in the GMPPB gene may underlie both limb girdle muscular dystrophy (LGMD) and congenital myasthenic syndrome (CMS… (More)
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2017
2017
Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions; some fatal in the first few years… (More)
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2015
2015
Dystroglycanopathies are a heterogeneous group of diseases with a broad phenotypic spectrum ranging from severe disorders with… (More)
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2015
2015
Congenital myasthenic syndromes are inherited disorders that arise from impaired signal transmission at the neuromuscular… (More)
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2015
2015
Mutations in GDP-mannose pyrophosphorylase B (GMPPB), a catalyst for the formation of the sugar donor GDP-mannose, were recently… (More)
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2015
2015
Congenital myasthenic syndromes are inherited disorders that arise from impaired signal transmission at the neuromuscular… (More)
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2014
2014
The alpha-dystroglycanopathies are genetically heterogeneous muscular dystrophies that result from hypoglycosylation of alpha… (More)
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