Two novel mutations in ALDH18A1 and SPG11 genes found by whole-exome sequencing in spastic paraplegia disease patients in Iran

Hereditary spastic paraplegia is a not common inherited neurological disorder with heterogeneous clinical expressions. ALDH18A1 (located on 10q24.1) gene-related spastic paraplegias (SPG9A and SPG9B) are rare metabolic disorders caused by dominant and recessive mutations that have been found recentl...

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Detalles Bibliográficos
Autores principales: Komachali, Sajad Rafiee, Siahpoosh, Zakieh, Salehi, Mansoor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korea Genome Organization 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9576469/
https://www.ncbi.nlm.nih.gov/pubmed/36239107
http://dx.doi.org/10.5808/gi.22030

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9576469/
https://www.ncbi.nlm.nih.gov/pubmed/36239107
http://dx.doi.org/10.5808/gi.22030

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