Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene

OBJECTIVE: To report a series of patients with cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma (CBL) gene and examine the functional role of the identified mutant Cbl protein. We hypothesized that mutated Cbl fails to act as a negative regulator of the R...

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Vydáno v:Neurol Genet
Hlavní autoři: Hong, Ying, Keylock, Annette, Jensen, Barbara, Jacques, Thomas S., Ogunbiyi, Olumide, Omoyinmi, Ebun, Saunders, Dawn, Mallick, Andrew A., Tooley, Madeleine, Newbury-Ecob, Ruth, Rankin, Julia, Williams, Hywel J., Ganesan, Vijeya, Brogan, Paul A., Eleftheriou, Despina
Médium: Artigo
Jazyk:Inglês
Vydáno: Wolters Kluwer 2020
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7323481/
https://ncbi.nlm.nih.gov/pubmed/32637631
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000448
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