טוען...
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation
Hypomyelination with atrophy of the basal ganglia and cerebellum is a rare leukoencephalopathy that was identified using magnetic resonance imaging in 2002. In 2013, whole exome sequencing of 11 patients with the disease revealed that they all had the same de novo mutation in TUBB4A, which encodes t...
שמור ב:
| הוצא לאור ב: | Brain |
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| Main Authors: | , , , , , , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Oxford University Press
2014
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4345790/ https://ncbi.nlm.nih.gov/pubmed/24785942 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awu110 |
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