Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance

Mutations in the ALDOB gene impair the activity of the hepatic aldolase B enzyme, causing hereditary fructose intolerance (HFI), an inherited autosomic recessive disease of carbohydrate metabolism, that can result in hypoglycemia, liver and kidney failure, coma, and death. Noninvasive diagnosis is p...

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Hlavní autoři: Ferri, Lorenzo, Caciotti, Anna, Cavicchi, Catia, Rigoldi, Miriam, Parini, Rossella, Caserta, Marina, Chibbaro, Guido, Gasperini, Serena, Procopio, Elena, Donati, Maria Alice, Guerrini, Renzo, Morrone, Amelia
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2012
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3565637/
https://ncbi.nlm.nih.gov/pubmed/23430936
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_125
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