Mucolipidosis Type IV in Omani Families with a Novel MCOLN1 Mutation: Search for Evidence of Founder Effect

Mucolipidosis Type IV (MLIV) is caused by a deficiency of the mucolipin cation channel encoded by Mucolipin TRP Cation Channel 1 gene (MCOLN1). It is a slowly progressive neurodevelopmental and neurodegenerative disorder causing severe psychomotor developmental delay and progressive visual impairmen...

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Detalles Bibliográficos
Autores principales: Al-Alawi, Badriya, Harikrishna, Beena, Al-Thihli, Khalid, Al Zuhabi, Sana, Ganesh, Anuradha, Al Hashami, Zainab, Al Dhamhmani, Zeyana, Zadjali, Razan, Al Riyami, Nafila B., Zadjali, Fahad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872508/
https://www.ncbi.nlm.nih.gov/pubmed/35205297
http://dx.doi.org/10.3390/genes13020248

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8872508/
https://www.ncbi.nlm.nih.gov/pubmed/35205297
http://dx.doi.org/10.3390/genes13020248

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