A carregar...
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: Mutation analysis suggests a functional importance of C-terminus of the IDUA protein
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder that is caused by a deficiency of the enzyme α-l-iduronidase (IDUA). Of the 21 Czech and Slovak patients who have been diagnosed with MPS I in the last 30 years, 16 have a severe clinical presentation (Hurler s...
Na minha lista:
Main Authors: | , , , , , , , , , , , , , |
---|---|
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Wiley Subscription Services, Inc., A Wiley Company
2009
|
Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3526155/ https://ncbi.nlm.nih.gov/pubmed/19396826 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32812 |
Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|