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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2012
Assuntos:
Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados