A Case of Type 2 Sialidosis With Deletion of a Single Nucleotide at Position c.947 of the Neuraminidase 1 (NEU1) Gene

Sialidosis is a rare, autosomal recessive inherited disorder caused by α-N-acetyl neuraminidase deficiency resulting from a mutation in the neuraminidase gene (NEU1), located on 6p21.33. A definitive diagnosis is made after the identification of a mutation in the NEU1 gene. An association exists bet...

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Detalles Bibliográficos
Autores principales: Hassan, Moath, Alharbi, Mohammed A, Alhassani, Reem Y, Hussain, ARWA A, Kamfar, Ramziyyah Y
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8752412/
https://www.ncbi.nlm.nih.gov/pubmed/35036219
http://dx.doi.org/10.7759/cureus.20389

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8752412/
https://www.ncbi.nlm.nih.gov/pubmed/35036219
http://dx.doi.org/10.7759/cureus.20389

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