Biallelic somatic and germ line CCM1 truncating mutations in a cerebral cavernous malformation lesion. [electronic resource]
- Stroke Apr 2005
- 872-4 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.
1524-4628
10.1161/01.STR.0000157586.20479.fd doi
Alleles Amino Acid Sequence Base Sequence Chromatography, High Pressure Liquid Exons Gene Deletion Genetic Markers Germ-Line Mutation Hemangioma, Cavernous, Central Nervous System--genetics Hemorrhage--genetics Humans KRIT1 Protein Magnetic Resonance Imaging Microtubule-Associated Proteins--genetics Molecular Sequence Data Mutation Proto-Oncogene Proteins--genetics RNA--metabolism Reverse Transcriptase Polymerase Chain Reaction Sequence Analysis, DNA Stroke--genetics