A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype
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Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of GlycosylationClinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.Clinical glycomics for the diagnosis of congenital disorders of glycosylation.Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.Structures of DPAGT1 Explain Glycosylation Disease Mechanisms and Advance TB Antibiotic Design
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P2860
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 19 December 2012
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vedecký článok
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A compound heterozygous mutati ...... th a relatively mild phenotype
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A compound heterozygous mutati ...... h a relatively mild phenotype.
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A compound heterozygous mutati ...... th a relatively mild phenotype
@en
A compound heterozygous mutati ...... h a relatively mild phenotype.
@nl
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A compound heterozygous mutati ...... th a relatively mild phenotype
@en
A compound heterozygous mutati ...... h a relatively mild phenotype.
@nl
P2093
P2860
P50
P356
P1476
A compound heterozygous mutati ...... th a relatively mild phenotype
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P2093
Arjan P M de Brouwer
Attia Razzaq
Dirk J Lefeber
Mohsin Shahzad
Monique van Scherpenzeel
Muhammad Yasir Zahoor
Shaheen N Khan
Sheikh Riazuddin
Tjitske Kleefstra
P2860
P2888
P304
P356
10.1038/EJHG.2012.257
P577
2012-12-19T00:00:00Z