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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.
This article was published in the following journal.
Name: Genes & genomics
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...
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...
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...
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 ...
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...
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...
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...
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 ...
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...
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...
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.
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...