Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene

Mucopolysaccharidosis type IVA (MPS IVA) is a rare genetic disease caused by mutations in the GALNS gene and is inherited in an autosomal recessive manner. GALNS encodes N-acetylgalactosamine-6-sulfatase that breaks down certain complex carbohydrates known as glycosaminoglycans (GAGs). Deficiency in...

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Detalles Bibliográficos
Autores principales: Li, Rong, Baskfield, Amanda, Beers, Jeanette, Zou, Jizhong, Liu, Chengyu, Alméciga-Díaz, Carlos J., Zheng, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8045742/
https://www.ncbi.nlm.nih.gov/pubmed/30797135
http://dx.doi.org/10.1016/j.scr.2019.101408

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