Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.

Subjects

Subjects :

Humans
Introns
KRIT1 Protein
RNA Splicing
Central Nervous System Neoplasms genetics
Hemangioma, Cavernous, Central Nervous System genetics
Microtubule-Associated Proteins genetics
Point Mutation
Proto-Oncogene Proteins genetics

Details

Language :

English

ISSN :

1432-1203

Volume :

122

Issue :

5

Database :

MEDLINE

Journal :

Human genetics

Publication Type :

Academic Journal

Accession number :

18380023