Mutations within the MGC4607 Gene Cause Cerebral Cavernous Malformations
Authors:
- S. GoutagnySGS. Goutagny
- P. LabaugePLP. Labauge
- V. KrivosicVKV. Krivosic
- M ArnoultMAM Arnoult
- A. CousinACA. Cousin
- A.L. BenabidABA.L. Benabid
- J. ComoyJCJ. Comoy
- P. FrerebeauPFP. Frerebeau
- B. GilbertBGB. Gilbert
- J.P. HouttevilleJHJ.P. Houtteville
- M. JanMJM. Jan
Top Cited Papers
- 1 February 2004
- journal article
- Published by Elsevier in The American Journal of Human Genetics
- Vol. 74 (2) , 326-337
Abstract
No abstract availableKeywords
This publication has 31 references indexed in Scilit:
- Widespread central nervous system cavernous malformations associated with café-au-lait skin lesionsJournal of Neurosurgery, 2003
- Mutational analysis of 206 families with cavernous malformationsJournal of Neurosurgery, 2003
- Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous MalformationsEuropean Journal of Human Genetics, 2002
- Krit1 Missense Mutations Lead to Splicing Errors in Cerebral Cavernous MalformationThe American Journal of Human Genetics, 2002
- Germline mutations in the CCM1 gene, encoding Krit1, cause cerebral cavernous malformationsAnnals of Neurology, 2001
- Computational and Experimental Analyses Reveal Previously Undetected Coding Exons of the KRIT1 (CCM1) GeneGenomics, 2001
- Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas familiesEuropean Journal of Human Genetics, 1999
- Natural history of the cavernous angiomaJournal of Neurosurgery, 1991
- Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locusCell, 1990
- Cerebral Cavernous MalformationsNew England Journal of Medicine, 1988