Paediatric cerebral vasculopathy in sickle cell anaemia: contribution of genetic modifiers

Sickle cell anaemia (SCA) arises from homozygosity for the mutation c.20A>T in the HBB gene. However, it shows a multifactorial-like behaviour with high heterogeneity of clinical features. Cerebral vasculopathy (CVA), namely paediatric ischemic stroke, is one of its most devastating consequences....

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Detalhes bibliográficos
Autor principal: Silva, Marisa (author)
Outros Autores: Vargas, Sofia (author), Coelho, Andreia (author), Mendonça, Joana (author), Vieira, Luís (author), Kjollerstrom, Paula (author), Maia, Raquel (author), Silva, Rita (author), Dias, Alexandra (author), Ferreira, Teresa (author), Morais, Anabela (author), Mota Soares, Isabel (author), Lavinha, João (author), Faustino, Paula (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2020
Assuntos:
Sickle Cell Anaemia
Cerebral Vasculopathy
Genetic Modifiers
Hemoglobinopatias
Anemia
VCAM1
Vasculopatia cerebral
Modificadores genéticos
Medicina personalizada
Doenças Genéticas
Doenças Raras
Drepanocitose
Anemia das Células Falciformes
Texto completo:http://hdl.handle.net/10400.18/6731
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/6731

Texto Completo

http://hdl.handle.net/10400.18/6731

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