Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients.

08:00 EDT 26th April 2019 | BioPortfolio

Summary of "Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients."

Glycogen storage disease type III is an autosomal recessive disorder that is caused by deficiencies of the glycogen debranching enzyme. Mutations within the AGL gene have been found to be heterogeneous, with some common mutations being reported in certain populations. The mutation spectrum of AGL gene in the multi-ethnic Malaysian population is still unknown.


Journal Details

This article was published in the following journal.

Name: Genes & genomics
ISSN: 2092-9293


DeepDyve research library

PubMed Articles [32136 Associated PubMed Articles listed on BioPortfolio]

Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer.

Biliary tract cancer (BTC) is one of the rare cancers and associated with poor prognosis. To understand genetic characteristics of BTC, we analyzed whole exome sequencing (WES) data and identified som...

Dissection of Subclonal Evolution by Temporal Mutation Profiling in Chronic Lymphocytic Leukemia Patients Treated With Ibrutinib.

The Bruton's tyrosine kinase (BTK) inhibitor ibrutinib is inducing durable responses in chronic lymphocytic leukemia (CLL) patients with refractory/relapsed disease or with TP53 defect, with BTK and P...

Identification of Short Exons Disunited by a Short Intron in Eukaryotic DNA Regions.

Weak codon bias in short exons and separation by a short intron induces difficulty in extracting period-3 component that marks the presence of exonic regions. The annotation task of such short exons h...

Intron retention as an alternative splice variant of the cattle ANGPTL6 gene.

Angiopoietin-like protein 6, which is encoded by ANGPTL6 gene (also known as angiopoietin growth factor, AGF), has been extensively characterized with regard to its proposed functions as angiogenesis ...

The diagnosis of cystinosis in patients reveals new CTNS gene mutations in the Chinese population.

Background Cystinosis is a rare autosomal-recessive disorder caused by a defective transport of cystine across the lysosomal membrane. Previous studies have mapped cystinosis to the CTNS gene which is...

Clinical Trials [3213 Associated Clinical Trials listed on BioPortfolio]

SCH 54031 PEG12000 Interferon Alfa-2b (PEG Intron) vs. INTRON®A as Adjuvant Therapy for Melanoma (MK-4031-002)

This is a Phase II/III randomized, controlled, multicenter, open-label study designed to assess the safety, efficacy, and impact on quality of life of PEG Intron and INTRON® A and the pop...

Phase III PEG-Intron in HIV-infected Patients (Study P00738)

This is a randomized, double-blind, multicenter trial testing 2 doses of PEG-Intron, 1.0mcg/kg/week and 3.0mcg/kg/week in heavily treatment-experienced HIV-infected patients compared to pl...

Safety, Tolerability, and Anti-HIV Activity of PEG-Intron in HIV-Positive Children

The purpose of this study is to see if PEG-Intron is safe and tolerated when given to children, to see how much gets into the blood and how long it stays in the blood, and to see how well ...

Peg-Intron Versus Adefovir in the Treatment of Chronic Hepatitis B (CHB) e Antigen Positive Patients in Taiwan (Study P04498)(COMPLETED)

This is an open label, randomized, comparative, multi-center study. Subjects will be screened within 2 weeks prior to study entry to establish eligibility. Subjects who meet all the sele...

Study of Patients With Chronic Hepatitis C Infected With HCV LVL 1 and Effect of Peg-Intron Plus Rebetol Treatment (Study P04793 Part 2)

To determine the relapse rate at 24 weeks follow up in HCV LVL G1 patients treated for 24 weeks with Peg Intron and Rebetol who are HCV-RNA negative at treatment week 4 and week 24. To det...

Medical and Biotech [MESH] Definitions

A plant genus of the family SIMAROUBACEAE. Members contain quassinoids. There is Malaysian folk use of these plants for male virility.

The retention of a denture in place by design, device, or adhesion.

The retention of a dental prosthesis in place by design, device, or adhesion.

Mutations in genes which lead to cell or organism death when occurring in combination with mutations in one or more other genes.

Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified.

Quick Search


DeepDyve research library

Relevant Topics

Enzymes are proteins that catalyze (i.e., increase the rates of) chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical re...

Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...

Searches Linking to this Article