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

Eerola, Iiro;McIntyre, Brendan;Vikkula, Miikka
(2001) Biochimica et Biophysica Acta : international journal of biochemistry and biophysics — Vol. 1517, n° 3, p. 464-467 (2001)

Files

21962.pdf
  • Restricted Access
  • Adobe PDF
  • 351.95 KB
Request a copy

Details

Authors
  • Eerola, IiroUCLouvain
    Author
  • McIntyre, BrendanUCLouvain
    Author
  • Vikkula, MiikkaUCLouvain
    Author
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.
Affiliations

Citations

  • APA
  • Chicago
  • FWB

Eerola, I., McIntyre, B., & Vikkula, M. (2001). Identification of eight novel 5′-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1. Biochimica et Biophysica Acta : international journal of biochemistry and biophysics, 1517(3), 464-467. https://hdl.handle.net/2078.5/50181 (Original work published 2001)