Literature DB >> 11831930

A novel KRIT1/CCM1 truncating mutation in a patient with cerebral and retinal cavernous angiomas.

Sophie Laberge-Le Couteulx1, Antoine P Brézin, Bertrand Fontaine, Elisabeth Tournier-Lasserve, Pierre Labauge.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2002        PMID： 11831930

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


× No keyword cloud information.
  3 in total

1.  Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation.

Authors:  Shantan Reddy; Michael B Gorin; Tara A McCannel; Irena Tsui; Bradley R Straatsma
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2010-03-20       Impact factor: 3.117

2.  Defining the functional domain of programmed cell death 10 through its interactions with phosphatidylinositol-3,4,5-trisphosphate.

Authors:  Christopher F Dibble; Jeremy A Horst; Michael H Malone; Kun Park; Brenda Temple; Holly Cheeseman; Justin R Barbaro; Gary L Johnson; Sompop Bencharit
Journal:  PLoS One       Date:  2010-07-23       Impact factor: 3.240

3.  Mutations within the MGC4607 gene cause cerebral cavernous malformations.

Authors:  C Denier; S Goutagny; P Labauge; V Krivosic; M Arnoult; A Cousin; A L Benabid; J Comoy; P Frerebeau; B Gilbert; J P Houtteville; M Jan; F Lapierre; H Loiseau; P Menei; P Mercier; J J Moreau; A Nivelon-Chevallier; F Parker; A M Redondo; J M Scarabin; M Tremoulet; M Zerah; J Maciazek; E Tournier-Lasserve
Journal:  Am J Hum Genet       Date:  2004-01-22       Impact factor: 11.025
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.