Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region
about
Glycogen metabolism in humansGenomic organization of the human mucin gene MUC5B. cDNA and genomic sequences upstream of the large central exonGlycogen storage disease type III diagnosis and management guidelinesThe molecular background of glycogen metabolism disorders.AT-AC pre-mRNA splicing mechanisms and conservation of minor introns in voltage-gated ion channel genes.Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.Glycogen storage diseases: new perspectives.Comparison of muscle transcriptome between pigs with divergent meat quality phenotypes identifies genes related to muscle metabolism and structurePreclinical Development of New Therapy for Glycogen Storage Diseases.Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL GeneEchocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time.A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III.Egyptian glycogen storage disease type III - identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId.A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa.A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect.Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.Characterization of a SINE indel polymorphism in the porcine AGL gene and assignment of the gene to chromosome 4q.Molecular analysis of the AGL gene: Identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III
P2860
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P2860
Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region
description
1996 nî lūn-bûn
@nan
1996 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Human glycogen debranching enz ...... tion of the 5' flanking region
@ast
Human glycogen debranching enz ...... tion of the 5' flanking region
@en
Human glycogen debranching enz ...... tion of the 5' flanking region
@nl
type
label
Human glycogen debranching enz ...... tion of the 5' flanking region
@ast
Human glycogen debranching enz ...... tion of the 5' flanking region
@en
Human glycogen debranching enz ...... tion of the 5' flanking region
@nl
prefLabel
Human glycogen debranching enz ...... tion of the 5' flanking region
@ast
Human glycogen debranching enz ...... tion of the 5' flanking region
@en
Human glycogen debranching enz ...... tion of the 5' flanking region
@nl
P356
P1433
P1476
Human glycogen debranching enz ...... tion of the 5' flanking region
@en
P304
P356
10.1006/GENO.1996.0611
P407
P577
1996-12-01T00:00:00Z