Biallelic somatic and germ line CCM1 truncating mutations in a cerebral cavernous malformation lesion

Stroke

Volumn 36, Issue 4, 2005, Pages 872-874

  Gault, Judith ^a,b   Shenkar, Robert ^b   Recksiek, Peter ^a   Awad, Issam A ^b  

^a UNIVERSITY OF COLORADO   (United States)

^b Evanston Northwestern Healthcare ^*  (United States)

Author keywords

Genetics; Mutation; Stroke, hemorrhagic; Vascular malformations

Indexed keywords

DNA; GENE PRODUCT; NUCLEOTIDE; RNA;

ALLELISM; ARTICLE; BRAIN HEMORRHAGE; CCM1 GENE; CCM2 GENE; CCM3 GENE; CEREBRAL CAVERNOUS MALFORMATION; CEREBROVASCULAR ACCIDENT; CEREBROVASCULAR MALFORMATION; CLONING; DENATURING HIGH PRESSURE LIQUID CHROMATOGRAPHY; DISEASE PREDISPOSITION; DNA DAMAGE; DNA ISOLATION; EPILEPSY; EXON; GENE; GENE AMPLIFICATION; GENE DELETION; GENE SEQUENCE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; HUMAN TISSUE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ISOLATION; SEQUENCE ANALYSIS; SOMATIC MUTATION;

ALLELES; AMINO ACID SEQUENCE; BASE SEQUENCE; CEREBROVASCULAR ACCIDENT; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; EXONS; GENE DELETION; GENETIC MARKERS; GERM-LINE MUTATION; HEMANGIOMA, CAVERNOUS, CENTRAL NERVOUS SYSTEM; HEMORRHAGE; HUMANS; MAGNETIC RESONANCE IMAGING; MICROTUBULE-ASSOCIATED PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PROTO-ONCOGENE PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA; SEQUENCE ANALYSIS, DNA;

EID: 16844378663     PISSN: 00392499     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.STR.0000157586.20479.fd     Document Type: Article

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