Next-Generation Sequencing of Hereditary Hemochromatosis-Related Genes: Novel Likely Pathogenic Variants Found in the Portuguese Population

Hereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by excessive iron absorption resulting in pathologically increased body iron stores. It is typically associated with common HFE gene mutation (p.Cys282Tyr and p.His63Asp). However, in Southern European populations up to...

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Detalhes bibliográficos
Autor principal: Faria, R (author)
Outros Autores: Silva, B (author), Silva, C (author), Loureiro, P (author), Queiroz, A (author), Fraga, S (author), Esteves, J (author), Mendes, D (author), Fleming, R (author), Vieira, L (author), Gonçalves, J (author), Faustino, P (author)
Formato: article
Idioma:eng
Publicado em: 2016
Assuntos:
HSAC GAS
Hemochromatosis/genetics
Hemochromatosis Protein
Hepcidins/genetics
High-Throughput Nucleotide Sequencing/methods
Iron Metabolism Disorders/genetics
Mutation
Portugal
Receptors, Transferrin/genetics
Texto completo:http://hdl.handle.net/10400.17/2562
País:Portugal
Oai:oai:repositorio.chlc.min-saude.pt:10400.17/2562

Texto Completo

http://hdl.handle.net/10400.17/2562

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