De Novo MGC4607 Gene Heterozygous Missense Variants in a Child with Multiple Cerebral Cavernous Malformations-Reference-Cited by-同舟云学术

De Novo MGC4607 Gene Heterozygous Missense Variants in a Child with Multiple Cerebral Cavernous Malformations

Published:2012-03-14 Issue:3 Volume:47 Page:475-480
ISSN:0895-8696
Container-title:Journal of Molecular Neuroscience
language:en
Short-container-title:J Mol Neurosci

Author:

Mosca Lorena,Pileggi Silvana,Avemaria Francesca,Tarlarini Claudia,Cigoli Maria Sole,Capra Valeria,De Marco Patrizia,Pavanello Marco,Marocchi Alessandro,Penco Silvana

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s12031-012-9741-5.pdf

Reference30 articles.

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2. Cavalcanti DD, Kalani MYS, Martirosyan NL, Eales J, Spetzler RF, Preul MC (2012) Cerebral cavernous malformations: from genes to proteins to disease. J Neurosurg 116:122–132

3. Cavé-Riant F, Denier C, Labauge P et al (2002) Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with cerebral cavernous malformations. Eur J Hum Genet 10:733–740

4. Chalouhi N, Dumont AS, Randazzo C et al (2011) Management of incidentally discovered intracranial vascular abnormalities. Neurosurg Focus 31:1–12

5. Craig HD, Günel M, Cepeda O et al (1998) Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Hum Mol Genet 7:1851–1858

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