Glycogen storage diseases: Twenty‐seven new variants in a cohort of 125 patients-Reference-Cited by-同舟云学术

Glycogen storage diseases: Twenty‐seven new variants in a cohort of 125 patients

Published:2019-09-11 Issue:11 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Sperb-Ludwig Fernanda¹²^ORCID,Pinheiro Franciele Cabral¹²,Bettio Soares Malu²,Nalin Tatiele¹,Ribeiro Erlane Marques³,Steiner Carlos Eduardo⁴,Ribeiro Valadares Eugênia⁵,Porta Gilda⁶,Fishinger Moura de Souza Carolina⁷,Schwartz Ida Vanessa Doederlein¹²⁷

Affiliation:

1. Post‐Graduation Program in Genetics and Molecular Biology Universidade Federal do Rio Grande do Sul Porto Alegre Brazil

2. Laboratory of Basic Research and Advanced Investigations in Neurosciences (BRAIN) Hospital de Clínicas de Porto Alegre Porto Alegre Brazil

3. Hospital Infantil Albert Sabin Fortaleza Brazil

4. Universidade Estadual de Campinas Campinas Brazil

5. Departamento de Propedêutica Complementar Faculdade de Medicina da Universidade Federal de Minas Gerais Belo Horizonte Brazil

6. Hospital Infantil Menino Jesus São Paulo Brazil

7. Medical Genetics Service Hospital de Clínicas de Porto Alegre Porto Alegre Brazil

Funder

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.877

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5. Detection of PHKA2 Gene Mutation in Four Japanese Patients with Hepatic Phosphorylase Kinase Deficiency

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