Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA

BACKGROUND: As mucopolysaccharidosis IVA (MPS IVA) is the most frequent MPS in Colombia, this paper aims to describe its clinical and mutational characteristics in 32 diagnosed patients included in this study. METHODS: Genotyping was completed by amplification and Sanger sequencing of the GALNS gene...

Descripción completa

Detalles Bibliográficos
Autores principales: Tapiero-Rodriguez, Sandra M, Acosta Guio, Johanna C, Porras-Hurtado, Gloria Liliana, García, Natalia, Solano, Martha, Pachajoa, Harry, Velasco, Harvy M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2018
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5926073/
https://www.ncbi.nlm.nih.gov/pubmed/29731656
http://dx.doi.org/10.2147/TACG.S141881

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5926073/
https://www.ncbi.nlm.nih.gov/pubmed/29731656
http://dx.doi.org/10.2147/TACG.S141881

Ejemplares similares