GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report

BACKGROUND: Mucolipidosis alpha/beta is an inborn error of metabolism characterized by deficiency of GlcNAc-1-phosphotransferase, in which essential alpha/beta subunits are encoded by the GNPTAB gene. The autosomal recessive condition is due to disruptions of hydrolase mannose 6-phosphate marker gen...

Descripción completa

Detalles Bibliográficos
Autores principales: Ho, Chi-Chun, Tsung, Lilian Li-Yan, Liu, Kam-Tim, Poon, Wing-Tat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134758/
https://www.ncbi.nlm.nih.gov/pubmed/30208878
http://dx.doi.org/10.1186/s12881-018-0679-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134758/
https://www.ncbi.nlm.nih.gov/pubmed/30208878
http://dx.doi.org/10.1186/s12881-018-0679-5

Ejemplares similares