Pontine autosomal dominant microangiopathy with leukoencephalopathy: col4a1 gene variants in the original family and sporadic stroke

HIGHLIGHTS

• who: Jessica Roos from the Institute of Health Informatics, University College London, London, UK have published the paper: Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke, in the Journal: (JOURNAL)
• what: PADMAL is an extremely rare autosomal dominant cerebral microangiopathy caused by variants in the COL4A1 miRNA29-binding_site.

SUMMARY

PADMAL is caused by variants outside the protein-coding part of COL4A1, affecting a micro-RNA (miRNA-29)-binding_site in the 3`-untranslated region (3`UTR). Power analysis (Supplemental Fig 1) showed a power . . .

 



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