Mutation spectrum in patients with fructose-1,6-bisphosphatase deficiency-Reference-Cited by-同舟云学术

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Mutation spectrum in patients with fructose-1,6-bisphosphatase deficiency

Published:2001-02 Issue:1 Volume:24 Page:87-88
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Herzog B.¹,Morris A. A. M.²,Saunders C.³,Eschrich K.¹

Affiliation:

1. ; Institute of Biochemistry; University of Leipzig; Germany

2. ; Department of Child Health, Royal Victoria Infirmary; University of Newcastle upon Tyne; UK

3. ; Division of Medical Genetics, Department of Pediatrics; Emory University School of Medicine; Atlanta Georgia USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005691730058/fullpdf

Reference2 articles.

1. Novel mutations in patients with fructose-1,6-bisphosphatase deficiency;Herzog;J Inherit Metab Dis,1999

2. Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency;Kikawa;Am J Hum Genet,1997

Cited by 21 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Identification of genotype–biochemical phenotype correlations associated with fructose 1,6-bisphosphatase deficiency;Communications Biology;2023-07-28

2. A novel variant in the FBP1 gene causes fructose-1,6-bisphosphatase deficiency through increased ubiquitination;Archives of Biochemistry and Biophysics;2023-07

3. Characterization based on genotype–biochemical phenotype association in fructose-1,6-bisphosphatase deficiency;2022-11-02

4. Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1;Journal of Pediatric Endocrinology and Metabolism;2022-02-18

5. Exon 2 deletion represents a common mutation in Turkish patients with fructose-1,6-bisphosphatase deficiency;Metabolic Brain Disease;2019-07-05

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