Biallelic somatic and germ line CCM1 truncating mutations in a cerebral cavernous malformation lesion. [electronic resource]
Producer: 20051018Description: 872-4 p. digitalISSN:- 1524-4628
- 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
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.
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