Genotype and Phenotype Differences in CADASIL from an Asian Perspective

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebral small-vessel disease caused by mutations in the NOTCH3 gene. Classical pathogenic mechanisms are associated with cysteine gain or loss, but recent studies suggest that cystei...

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Detalles Bibliográficos
Autores principales: Kim, Yerim, Bae, Jong Seok, Lee, Ju-Young, Song, Hong Ki, Lee, Ju-Hun, Lee, Minwoo, Kim, Chulho, Lee, Sang-Hwa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9569740/
https://www.ncbi.nlm.nih.gov/pubmed/36232798
http://dx.doi.org/10.3390/ijms231911506

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9569740/
https://www.ncbi.nlm.nih.gov/pubmed/36232798
http://dx.doi.org/10.3390/ijms231911506

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