Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations.

Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations.

Item
http://www.wikidata.org/entity/Q34620113
Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity.PDCD10 gene mutations in multiple cerebral cavernous malformationsA founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformationsGenetics of cerebral cavernous malformations: current status and future prospectsHigh mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.Predictive genetic testing of at-risk relatives requires analysis of all CCM genes after identification of an unclassified CCM1 variant in an individual affected with cerebral cavernous malformations.Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation.Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling
P2860

Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations.

Item
http://www.wikidata.org/entity/Q34620113
description
2007 nî lūn-bûn
@nan
2007 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Highly variable penetrance in ...... novel CCM1 and CCM2 mutations.
@ast
Highly variable penetrance in ...... novel CCM1 and CCM2 mutations.
@en
Highly variable penetrance in subjects affected with cavernous cerebral angiomas
@nl
type
label
Highly variable penetrance in ...... novel CCM1 and CCM2 mutations.
@ast
Highly variable penetrance in ...... novel CCM1 and CCM2 mutations.
@en
Highly variable penetrance in subjects affected with cavernous cerebral angiomas
@nl
prefLabel
Highly variable penetrance in ...... novel CCM1 and CCM2 mutations.
@ast
Highly variable penetrance in ...... novel CCM1 and CCM2 mutations.
@en
Highly variable penetrance in subjects affected with cavernous cerebral angiomas
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
Highly variable penetrance in ...... novel CCM1 and CCM2 mutations
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698