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BMJ Case Rep. 2018 Jul 30;2018. pii: bcr-2018-226246. doi: 10.1136/bcr-2018-226246.

Novel KRIT1/CCM1 heterozygous nonsense mutation (c.715 C>T) associated with cerebral and cerebellar cavernous malformations in a paediatric patient.

Author information

1
Department of Neurosciences and Pediatrics, University of California San Diego, San Diego, California, USA.

KEYWORDS:

neuroimaging; stroke

PMID:
30061145
DOI:
10.1136/bcr-2018-226246
[Indexed for MEDLINE]

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