PMID: 11342228May 9, 2001Paper

Identification of eight novel 5'-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1

Biochimica Et Biophysica Acta
I EerolaM Vikkula

Abstract

Truncating mutations in the CCM1 gene encoding KRIT1 were recently found in patients affected by inherited cerebral capillary malformations, lesions that cause a wide variety of neurologic problems. However, CCM1 mutations have not been identified in all the families linked to CCM1. Here we demonstrate that the CCM1 gene contains eight additional exons which may thus encompass the missing mutations.

References

Aug 4, 1999·Trends in Biochemical Sciences·S G Sedgwick, S J Smerdon

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Citations

Nov 30, 2013·Cellular and Molecular Life Sciences : CMLS·Oriana S Fisher, Titus J Boggon
Sep 1, 2005·Current Neurology and Neuroscience Reports·Nicholas W PlummerDouglas A Marchuk
Apr 18, 2002·Journal of the Neurological Sciences·Dong-Hui ChenThomas D Bird
Nov 11, 2008·Experimental Cell Research·Floriana FrancalanciSaverio Francesco Retta
Feb 17, 2007·Lancet Neurology·Pierre LabaugeElisabeth Tournier-Lasserve
Apr 10, 2002·American Journal of Human Genetics·Dominique J VerlaanGuy A Rouleau
Apr 6, 2005·Surgical Neurology·Ratul RaychaudhuriIssam A Awad
Sep 25, 2008·Neurosurgery·Jun ZhangRichard E Clatterbuck
Mar 29, 2008·Lymphatic Research and Biology·Farheen ShiraziJack L Arbiser
Oct 4, 2011·Journal of Neurosurgery·Daniel D CavalcantiMark C Preul
Jul 12, 2003·Journal of Neurosurgery·Maxwell S H LauransMurat Gunel
Jul 25, 2006·Neurosurgical Focus·Stefan A MindeaIssam A Awad
Oct 31, 2002·European Journal of Human Genetics : EJHG·Florence Cavé-RiantElisabeth Tournier-Lasserve
Apr 26, 2002·Current Problems in Pediatric and Adolescent Health Care·Francine Blei

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