Genotype/phenotype correlation in Glycogen Storage Disease type IX

Glycogen Storage Diseases type IX (GSD IX) are caused by a deficient activity of glycogen phosphorylase kinase and are due to mutations in PHKA1, PHKA2, PHKB or PHKG2. The first two genes are X-linked while the latter two follow an autosomal recessive inheritance. It is a common form of glycogenosis...

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Detalhes bibliográficos
Autor principal: Rocha, Hugo (author)
Outros Autores: Lopes, Altina (author), Rodrigues, Esmeralda (author), Silva, Ermelinda (author), Trindade, Eunice (author), Vaio, Francisco (author), Souza, Carolina (author), Leão, Elisa (author), Vilarinho, Laura (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2016
Assuntos:
Glycogen Storage Diseases type IX
Genetics
Doenças Genéticas
Texto completo:http://hdl.handle.net/10400.18/3756
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/3756

Texto Completo

http://hdl.handle.net/10400.18/3756

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