Cerebral cavernous malformation: clinical report of two families with variable phenotype associated with KRIT1 mutation.
about
Genetics of cerebral cavernous malformations: current status and future prospectsA Novel CCM1/KRIT1 Heterozygous Nonsense Mutation (c.1864C>T) Associated with Familial Cerebral Cavernous Malformation: a Genetic Insight from an 8-Year Continuous Observational Study.Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population.
P2860
Cerebral cavernous malformation: clinical report of two families with variable phenotype associated with KRIT1 mutation.
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Cerebral cavernous malformatio ...... ssociated with KRIT1 mutation.
@en
type
label
Cerebral cavernous malformatio ...... ssociated with KRIT1 mutation.
@en
prefLabel
Cerebral cavernous malformatio ...... ssociated with KRIT1 mutation.
@en
P2093
P1476
Cerebral cavernous malformatio ...... associated with KRIT1 mutation
@en
P2093
Lisa K Robertson
Rhona C Glover
Santosh R Mordekar
P304
P356
10.1016/J.EJPN.2013.05.003
P577
2013-06-24T00:00:00Z