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A novel mutation in a newborn baby leading to glycogen storage disease type Ia Cover

A novel mutation in a newborn baby leading to glycogen storage disease type Ia

By: S Dorum and  O Gorukmez  
Open Access
|Dec 2018

Figures & Tables

Figure 1

Sequencing analysis of the G6PC gene c.137T>G mutation. (a) The arrow shows the site of the homozygous c.137T>G mutation in the G6PC gene of the patient. (b) Heterozygous mutation carrier (mother). (c) Heterozygous mutation carrier (father).
Sequencing analysis of the G6PC gene c.137T>G mutation. (a) The arrow shows the site of the homozygous c.137T>G mutation in the G6PC gene of the patient. (b) Heterozygous mutation carrier (mother). (c) Heterozygous mutation carrier (father).
Language: English
Page range: 55 - 57
Published on: Dec 31, 2018
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2018 S Dorum, O Gorukmez, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.