Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping.
about
DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotypeDPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.Congenital disorders of glycosylation: The Saudi experience.Structures of DPAGT1 Explain Glycosylation Disease Mechanisms and Advance TB Antibiotic Design
P2860
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P2860
Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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name
Further Delineation of the Phe ...... ified by Homozygosity Mapping.
@ast
Further Delineation of the Phe ...... ified by Homozygosity Mapping.
@en
type
label
Further Delineation of the Phe ...... ified by Homozygosity Mapping.
@ast
Further Delineation of the Phe ...... ified by Homozygosity Mapping.
@en
prefLabel
Further Delineation of the Phe ...... ified by Homozygosity Mapping.
@ast
Further Delineation of the Phe ...... ified by Homozygosity Mapping.
@en
P2093
P2860
P356
P1476
Further Delineation of the Phe ...... ified by Homozygosity Mapping.
@en
P2093
Abeer Al-Mostafa
Faiqa Imtiaz
Zuhair N Al-Hassnan
P2860
P304
P356
10.1007/8904_2011_57
P577
2011-09-06T00:00:00Z