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

S Dorum

S Dorum

Department of Pediatrics, Division of Metabolism, Bursa Yuksek Ihtisas Training and Research HospitalBursa, Turkey
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Dorum, S
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O Gorukmez

O Gorukmez

Department of Genetics, Bursa Yuksek Ihtisas Training and Research HospitalBursa, Turkey
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Gorukmez, O
  
31 dic 2018
A novel mutation in a newborn baby leading to glycogen storage disease type Ia's Cover Image
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Categoria dell'articolo: Case Report
Pubblicato online: 31 dic 2018
Pagine: 55 - 57
DOI: https://doi.org/10.2478/bjmg-2018-0018
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© 2018 Dorum S, Gorukmez O, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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).
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Inglese
Frequenza di pubblicazione:
2 volte all'anno
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Medicina, Scienze medicali di base, Scienze medicali di base, altro
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