Literature DB >> 19475721

Aberrant splicing due to a silent nucleotide change in CCM2 gene in a family with cerebral cavernous malformation.

A Tonelli, S Lanfranconi, A Bersano, S Corti, M T Bassi, N Bresolin.   

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Year:  2009        PMID： 19475721     DOI： 10.1111/j.1399-0004.2009.01154.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  3 in total

1.  De novo MGC4607 gene heterozygous missense variants in a child with multiple cerebral cavernous malformations.

Authors:  Lorena Mosca; Silvana Pileggi; Francesca Avemaria; Claudia Tarlarini; Maria Sole Cigoli; Valeria Capra; Patrizia De Marco; Marco Pavanello; Alessandro Marocchi; Silvana Penco
Journal:  J Mol Neurosci       Date:  2012-03-14       Impact factor: 3.444

2.  Two Novel CCM2 Heterozygous Mutations Associated with Cerebral Cavernous Malformation in a Chinese Family.

Authors:  Qin Du; Ziyan Shi; Hongxi Chen; Ying Zhang; Jiancheng Wang; Hongyu Zhou
Journal:  J Mol Neurosci       Date:  2019-01-30       Impact factor: 3.444

3.  CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions.

Authors:  Florence Riant; Michaelle Cecillon; Pascale Saugier-Veber; Elisabeth Tournier-Lasserve
Journal:  Neurogenetics       Date:  2013-04-18       Impact factor: 2.660
  3 in total

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