Next Generation Sequencing of six iron-metabolism related genes in Portuguese patients with iron overload and a negative Hereditary Hemochromatosis-first level genetic test: a pilot study

Introduction: Hereditary Hemochromatosis (HH) is an autosomal recessive disorder characterized by excessive intestinal iron absorption and iron deposition in several organs leading to cardiac failure, cirrhosis and hepatocellular carcinoma. Molecular diagnosis of HFE-related HH is typically made by...

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Detalhes bibliográficos
Autor principal: Faria, Ricardo (author)
Outros Autores: Silva, Bruno (author), Silva, Catarina (author), Vieira, Luís (author), Loureiro, Pedro (author), Gomes, Susana (author), Gonçalves, João (author), Fleming, Rita (author), Faustino, Paula (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2014
Assuntos:
Doenças Genéticas
Metabolismo do Ferro
NGS
Variantes Genéticas
Sobrecarga em Ferro
HFE
Texto completo:http://hdl.handle.net/10400.18/2532
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/2532

Texto Completo

http://hdl.handle.net/10400.18/2532

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