The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant-Reference-Cited by-同舟云学术

The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant

Published:2021 Issue:2 Volume:44 Page:
ISSN:1678-4685
Container-title:Genetics and Molecular Biology
language:
Short-container-title:Genet. Mol. Biol.

Author:

Pinheiro Franciele Cabral¹^ORCID,Ligabue-Braun Rodrigo²,Siqueira Ana Cecília Menezes de³,Matuella Camila⁴,Souza Carolina Fischinger Moura de⁴,Monteiro Fabíola Paoli⁵,Kok Fernando⁶,Schwartz Ida Vanessa Doederlein⁷^ORCID,Sperb-Ludwig Fernanda⁸^ORCID

Affiliation:

1. Universidade Federal do Rio Grande do Sul, Brazil; Hospital de Clínicas de Porto Alegre, Brazil; Universidade Federal do Pampa, Brazil

2. Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Brazil

3. Instituto de Medicina Integral Professor Fernando Figueira (IMIP), Brazil

4. Hospital de Clínicas de Porto Alegre, Brazil

5. Mendelics Genomic Analysis, Brazil

6. Mendelics Genomic Analysis, Brazil; Universidade de São Paulo, Brazil

7. Universidade Federal do Rio Grande do Sul, Brazil; Hospital de Clínicas de Porto Alegre, Brazil; Hospital de Clínicas de Porto Alegre, Brazil

8. Universidade Federal do Rio Grande do Sul, Brazil; Hospital de Clínicas de Porto Alegre, Brazil

Publisher

FapUNIFESP (SciELO)

Subject

Genetics,Molecular Biology

Link

http://www.scielo.br/pdf/gmb/v44n2/1415-4757-GMB-44-2-e20200281.pdf

Reference32 articles.

1. Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K);Bhai P;Ann Hum Genet,2018

2. Effects of natural products on fructose-induced nonalcoholic fatty liver disease (NAFLD);Chen Q;Nutrients,2017

3. Identifying genes whose mutant transcripts cause dominant disease traits by potential gain-of-function Alleles;Coban-akdemir Z;Am J Hum Genet,2018

4. ScanProsite : detection of PROSITE signature matches and ProRule-associated functional and structural residues in proteins;de Castro E;Nucleic Acids Res,2006

5. How to get away with nonsense: Mechanisms and consequences of escape from nonsense‐mediated RNA decay;Dyle MC;Wiley Interdiscip Rev RNA,2020

Cited by 3 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. Fructose-1,6-bisphosphatase deficiency: estimation of prevalence in the Chinese population and analysis of genotype-phenotype association;Frontiers in Genetics;2024-07-05

2. Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A);Frontiers in Immunology;2023-06-14

3. Fructose-1,6-bisphosphatase deficiency: estimation of prevalence in the Chinese population and analysis of genotype-phenotype association;2023-01-17