Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair

BACKGROUND: Genomic imbalances constitute a major cause of congenital and developmental abnormalities. GLUT1 deficiency syndrome is caused by various de novo mutations in the facilitated human glucose transporter 1 gene (1p34.2) and patients with this syndrome have been diagnosed with hypoglycorrhac...

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Hlavní autoři: Aktas, Dilek, Utine, Eda G, Mrasek, Kristin, Weise, Anja, von Eggeling, Ferdinand, Yalaz, Kalbiye, Posorski, Nicole, Akarsu, Nurten, Alikasifoglu, Mehmet, Liehr, Thomas, Tuncbilek, Ergul
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2010
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Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2887874/
https://ncbi.nlm.nih.gov/pubmed/20509907
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-3-10
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