Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene
about
Insights into complexity of congenital disorders of glycosylation.A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activityALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
P2860
Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene
description
2011 nî lūn-bûn
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2011年の論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年论文
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2011年论文
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name
Frequency Determination of α-1 ...... olymorphisms in the hALG6 Gene
@ast
Frequency Determination of α-1 ...... olymorphisms in the hALG6 Gene
@en
type
label
Frequency Determination of α-1 ...... olymorphisms in the hALG6 Gene
@ast
Frequency Determination of α-1 ...... olymorphisms in the hALG6 Gene
@en
prefLabel
Frequency Determination of α-1 ...... olymorphisms in the hALG6 Gene
@ast
Frequency Determination of α-1 ...... olymorphisms in the hALG6 Gene
@en
P2093
P2860
P356
P1476
Frequency Determination of α-1 ...... olymorphisms in the hALG6 Gene
@en
P2093
Dinko Pavlinic
Jerka Dumic
Sandra Supraha Goreta
Sanja Dabelic
P2860
P356
10.1089/GTMB.2011.0093
P50
P577
2011-09-07T00:00:00Z