Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula

Mucopolysaccharidosis type IIIB (Sanfilippo B disease) is a rare autosomal recessive disorder caused by defective alpha-N-acetylglucosaminidase (NAGLU). We examined the NAGLU gene in 11 MPS IIIB Portuguese patients, having identified five novel (M1K, W147X, G304V, S522P, and R533X) and four previous...

ver descrição completa

Detalhes bibliográficos
Autor principal: Mangas, Mariana (author)
Outros Autores: Nogueira, Célia (author), Prata, Maria João (author), Lacerda, Lúcia (author), Coll, M.J. (author), Soares, Gabriela (author), Ribeiro, Gil (author), Amaral, Olga (author), Ferreira, Célia (author), Alves, C. (author), Coutinho, Maria Francisca (author), Alves, Sandra (author)
Formato: article
Idioma:eng
Publicado em: 2012
Assuntos:
Doenças Genéticas
MPS IIIA
MPS IIIB
Texto completo:http://hdl.handle.net/10400.18/726
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/726

Texto Completo

http://hdl.handle.net/10400.18/726

Registros relacionados