Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing

Mucopolysaccharidosis type II is an X-linked lysosomal storage disorder caused by mutations in the IDS gene that encodes the iduronate-2-sulfatase enzyme. The IDS gene is located on the long arm of the X-chromosome, comprising 9 exons, spanning approximately 24 kb. The analysis of carriers, in addit...

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Detalles Bibliográficos
Autores principales: Oliveira Netto, Alice Brinckmann, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Kubaski, Francyne, Josahkian, Juliana, Giugliani, Roberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Molecular Biosciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8602069/
https://www.ncbi.nlm.nih.gov/pubmed/34805285
http://dx.doi.org/10.3389/fmolb.2021.789350

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8602069/
https://www.ncbi.nlm.nih.gov/pubmed/34805285
http://dx.doi.org/10.3389/fmolb.2021.789350

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