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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

Balkan Journal of Medical Genetics
Volume 21 (2018): Issue 2 (December 2018)
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).
DOI: https://doi.org/10.2478/bjmg-2018-0018 | Journal eISSN: 2199-5761
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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
Keywords:
Glycogen storage disease type Ia (GSD1A),
Novel mutation,
von Gierke disease
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 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.

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