Novel Fructose-1,6-bisphosphatase Gene Mutation in Two Siblings
Author:
Affiliation:
1. Department of Pediatrics, Harran University, School of Medicine, Sanliurfa, Turkey.
2. Mugla School of Health, Mugla Sitki Kocman University, Mugla, Turkey.
Publisher
Mary Ann Liebert Inc
Subject
Cell Biology,Genetics,Molecular Biology,General Medicine
Link
http://www.liebertpub.com/doi/pdf/10.1089/dna.2013.2119
Reference15 articles.
1. Fructose 1,6-bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis
2. FASTING HYPOGLYCÆMIA AND METABOLIC ACIDOSIS ASSOCIATED WITH DEFICIENCY OF HEPATIC FRUCTOSE-1,6-DIPHOSPHATASE ACTIVITY
3. Human Fructose-1,6-Bisphosphatase Gene (FBP1): Exon-Intron Organization, Localization to Chromosome Bands 9q22.2-q22.3, and Mutation Screening in Subjects with Fructose-1,6-Bisphosphatase Deficiency
4. INVESTIGATION OF INBORN ERRORS OF METABOLISM IN UNEXPECTED INFANT DEATHS
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