Identification of genetic variants associated with a wide spectrum of phenotypes clinically diagnosed as Sanfilippo and Morquio syndromes using whole genome sequencing

Mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders (LSDs). MPSs are caused by excessive accumulation of mucopolysaccharides due to missing or deficiency of enzymes required for the degradation of specific macromolecules. MPS I-IV, MPS VI, MPS VII, and MPS IX are sub-types of muco...

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Detalles Bibliográficos
Autores principales: Gul, Rutaba, Firasat, Sabika, Schubert, Mikkel, Ullah, Asmat, Peña, Elionora, Thuesen, Anne C. B., Gjesing, Annete P., Hussain, Mulazim, Tufail, Muhammad, Saqib, Muhammad, Afshan, Kiran, Hansen, Torben
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10524275/
https://www.ncbi.nlm.nih.gov/pubmed/37772257
http://dx.doi.org/10.3389/fgene.2023.1254909

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