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GMPPB gene
Known as:
GMPP-BETA
, GDP-mannose pyrophosphorylase B
, GMPPB
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National Institutes of Health
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Related topics
Related topics
1 relation
Mannose-1-phosphate guanylyltransferase
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2016
Review
2016
Brain MRI Findings in the Dystroglycanopathies; Comparison with Language and Motor Function (P4.087)
Brianna N. Brun
,
S. Mockler
,
+5 authors
K. Mathews
Neurology
2016
Corpus ID: 76141056
Objective: To describe the spectrum of brain MRI findings in a group of 23 patients with alpha dystroglycanopathy (DG) (mutations…
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2015
2015
Phenotypic Variation resulting from GMPPB Mutations with Genotype Phenotype Observations (P2.024)
B. Jensen
,
S. Moore
,
C. Stephan
,
K. Mathews
Neurology
2015
Corpus ID: 73856332
OBJECTIVE: We describe four patients with mutations in GMPPB and compare genotype and phenotype with previously reported patients…
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2014
2014
Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations
Alya R. Raphael
,
Julien Couthouis
,
+4 authors
A. Gitler
Brain Research
2014
Corpus ID: 25959157
Review
2014
Review
2014
G.P.314 Alpha-dystroglycanopathy: Two new patients with GMPPB mutations and a mild limb-girdle phenotype
M. Sframeli
,
A. Sarkozy
,
+9 authors
F. Muntoni
Neuromuscular Disorders
2014
Corpus ID: 54338131
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