Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.
about
MAN1B1 deficiency: an unexpected CDG-IIAdult phenotype and further phenotypic variability in SRD5A3-CDG.Understanding human glycosylation disorders: biochemistry leads the charge.Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylationWhat Have We Learned from Glycosyltransferase Knockouts in Mice?Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia.
P2860
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P2860
Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.
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article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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artigo científico
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artigo científico
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artikel ilmiah
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artículo científico
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Approaches to homozygosity map ...... ication of novel types of CDG.
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type
label
Approaches to homozygosity map ...... ication of novel types of CDG.
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prefLabel
Approaches to homozygosity map ...... ication of novel types of CDG.
@en
P2093
P2860
P1476
Approaches to homozygosity map ...... ication of novel types of CDG.
@en
P2093
Daisy Rymen
Erika Souche
Gert Matthijs
María Beatriz Bistué Millón
Valérie Race
P2860
P2888
P356
10.1007/S10719-012-9445-7
P577
2012-09-15T00:00:00Z
P6179
1008700035