Glucose-6-phosphatase (G6PC1) promoter polymorphism associated with glycogen storage disease type 1a among the Indian population-Reference-Cited by-同舟云学术

Glucose-6-phosphatase (G6PC1) promoter polymorphism associated with glycogen storage disease type 1a among the Indian population

Published:2015 Issue:80 Volume:5 Page:65297-65302
ISSN:2046-2069
Container-title:RSC Advances
language:en
Short-container-title:RSC Adv.

Author:

Karthi Sellamuthu¹²³⁴⁵,Manimaran Paramasivam¹²³⁴⁵,Gandhimathi Krishnan¹²³⁴⁵,Ganesh Ramasamy⁶⁷⁵,Varalakshmi Perumal⁸²³⁴⁵,Ashokkumar Balasubramaniem¹²³⁴⁵

Affiliation:

1. Department of Genetic Engineering

2. School of Biotechnology

3. Madurai Kamaraj University

4. Madurai

5. India

6. Kanchi Kamakoti CHILDS Trust Hospital & The CHILDS Trust Medical Research Foundation

7. Chennai

8. Department of Molecular Microbiology

Abstract

Promoter polymorphism rs559748047 inG6PC1from GSD-1a among Indian population.

Publisher

Royal Society of Chemistry (RSC)

Subject

General Chemical Engineering,General Chemistry

Link

http://pubs.rsc.org/en/content/articlepdf/2015/RA/C5RA10452A

Reference22 articles.

1. Type I Glycogen Storage Diseases: Disorders of the Glucose-6- Phosphatase Complex

2. New knowledge regarding glucose-6 phosphatase gene and protein and their roles in the regulation of glucose metabolism

3. J. Fernandes and G. P. A.Smit, The Glycogen-Storage Diseases, in Inborn Metabolic Diseases, ed. J. Fernandes, J. M. Saudubray and G. van den Berghe, Springer, Berlin, Heidelberg, New York, 2000, pp. 85–101

4. Natural History of Hepatocellular Adenoma Formation in Glycogen Storage Disease Type I

5. Y. T. Chen , in The Metabolic and Molecular Bases of Inherited Disease, ed. C. R. Scriver, A. L. Beaudet, W. S. Sly, D. Valle, B. Childs, K. W. Kinzler and B. Vogelstein, McGraw-Hill, New York, 8th edn, 2001, pp. 1521–1551

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1. Mutational spectrum and identification of five novel mutations in G6PC1 gene from a cohort of Glycogen Storage Disease Type 1a;Gene;2019-06

2. 3′-UTR SNP rs2229611 in G6PC1 affects mRNA stability, expression and Glycogen Storage Disease type-Ia risk;Clinica Chimica Acta;2017-08