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Mutations in the Promoter Region of the Aldolase B Gene that cause Hereditary Fructose Intolerance

Hereditary fructose intolerance (HFI) is a potentially fatal inherited metabolic disease caused by a deficiency of aldolase B activity in the liver and kidney. Over 40 disease-causing mutations are known in the protein-coding region of ALDOB. Mutations upstream of the protein-coding portion of ALDOB...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Coffee, Erin M., Tolan, Dean R.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2010
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2993836/
https://ncbi.nlm.nih.gov/pubmed/20882353
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-010-9192-5
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