The functional significance of E277K and V295A HFE mutations

Hereditary haemochromatosis (HH) is an autosomal recessive disorder characterized by excessive intestinal iron absorption resulting in increased pathological body iron stores. It is typically associated with homozygosity for the c.845G>A (p.C282Y) mutation in the HFE gene. However, other HFE alte...

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Bibliographic Details
Main Author: Silva, Bruno (author)
Other Authors: Martins, Rute (author), Proença, Daniela (author), Fleming, Rita (author), Faustino, Paula (author)
Format: article
Language:eng
Published: 2012
Subjects:
Doenças Genéticas
Metabolismo do Ferro
Hemocromatose Hereditária
HFE
Mutações Raras
Estudos de Expressão
Online Access:http://hdl.handle.net/10400.18/886
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/886

Internet

http://hdl.handle.net/10400.18/886

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