Pages that link to "Q44293479"

The following pages link to CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations (Q44293479):

Displaying 12 items.

• Deletions in CCM2 are a common cause of cerebral cavernous malformations (Q24680763) (← links)
• Defining the Functional Domain of Programmed Cell Death 10 through Its Interactions with Phosphatidylinositol-3,4,5-Trisphosphate (Q33644309) (← links)
• Familial cavernous malformations of the central nervous system. A clinical and genetic study of 15 German families (Q34554938) (← links)
• A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations (Q35093781) (← links)
• Genetics of cerebral cavernous malformations (Q36244593) (← links)
• Brainstem cavernous malformations (Q37464609) (← links)
• Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex (Q38293230) (← links)
• Mutation prevalence of cerebral cavernous malformation genes in Spanish patients (Q41888415) (← links)
• Clinical impact of CCM mutation detection in familial cavernous angioma (Q48418296) (← links)
• Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling (Q57652948) (← links)
• Inherited cavernous malformations of the central nervous system: clinical and genetic features in 19 Swiss families (Q84567587) (← links)
• First Report of Concomitant Pathogenic Mutations Within MGC4607/CCM2 and KRIT1/CCM1 in a Familiar Cerebral Cavernous Malformation Patient (Q96946488) (← links)