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...

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Bibliographic Details
Main Author: Mangas, Mariana (author)
Other Authors: 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)
Format: article
Language:eng
Published: 2012
Subjects:
Doenças Genéticas
MPS IIIA
MPS IIIB
Online Access:http://hdl.handle.net/10400.18/726
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/726

Internet

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

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