A Novel Mutation in COL4A1 Gene in a Chinese Family with Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy

Pontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL) is a rare hereditary cerebral small vessel disease. We report a novel collagen type IV alpha 1 (COL4A1) gene mutation in a Chinese family with PADMAL. The index case was followed up for 6 years. Neuroimaging, whole-exome seq...

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Detalles Bibliográficos
Autores principales: Li, Qing, Wang, Chengfeng, Li, Wei, Zhang, Zaiqiang, Wang, Shanshan, Wupuer, Autongsha, Hu, Xiao, Wumaier, Kalibinuer, Zhu, Yi, Li, Hongyan, Yu, Wengui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8918453/
https://www.ncbi.nlm.nih.gov/pubmed/34415564
http://dx.doi.org/10.1007/s12975-021-00926-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8918453/
https://www.ncbi.nlm.nih.gov/pubmed/34415564
http://dx.doi.org/10.1007/s12975-021-00926-0

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