Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity.

Chen, Dong-Hui

Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity. [electronic resource] - Journal of the neurological sciences Apr 2002 - 91-6 p. digital

Publication Type: Journal Article; Research Support, U.S. Gov't, Non-P.H.S.

0022-510X

10.1016/s0022-510x(02)00031-x doi


Adult
Aged
Brain--blood supply
Cerebral Arteries--pathology
Child
China
Chromosomes, Human, Pair 7--genetics
Codon, Nonsense--genetics
DNA Mutational Analysis
Exons--genetics
Female
Genetic Variation--physiology
Hemangioma, Cavernous, Central Nervous System--genetics
Humans
KRIT1 Protein
Male
Methyltransferases--genetics
Microtubule-Associated Proteins
Middle Aged
Nevus--complications
Pedigree
Phenotype
Proto-Oncogene Proteins--genetics