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, Ricardo (author)
Outros Autores: Silva, Bruno (author), Silva, Catarina (author), Loureiro, Pedro (author), Queiroz, Ana (author), Fraga, Sofia (author), Esteves, Jorge (author), Mendes, Diana (author), Fleming, Rita (author), Vieira, Luís (author), Gonçalves, João (author), Faustino, Paula (author)
Formato: article
Idioma:eng
Publicado em: 2020
Assuntos:
Doenças Genéticas
Doenças Raras
Metabolismo do Ferro
Hemocromatose Hereditária
Next-generation Sequencing
Novel Mutations
Genetic Variants
Iron Metabolism
Hereditary Hemochromatosis
Texto completo:http://hdl.handle.net/10400.18/4011
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/4011

Texto Completo

http://hdl.handle.net/10400.18/4011

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