Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene

BMC Neurology

Volumn 3, Issue , 2003, Pages

  Lucas, Miguel ^a   Costa, Alzenire F ^a   García Moreno, José ^a   Solano, Francisca ^a   Gamero, Miguel A ^a   Izquierda, Guillermo ^a  

^a HOSPITAL UNIVERSITARIO VIRGEN MACARENA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; BINDING PROTEIN; PROTEIN KRIT1; THREONINE; UNCLASSIFIED DRUG; CCM1 PROTEIN, HUMAN; MICROTUBULE ASSOCIATED PROTEIN; ONCOPROTEIN;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAIN HEMANGIOMA; BRAIN HEMORRHAGE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ENVIRONMENTAL FACTOR; EXON; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC VARIABILITY; HEREDITY; HETEROZYGOSITY; HUMAN; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PENETRANCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PREDICTION; RELATIVE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK ASSESSMENT; SEQUENCE ANALYSIS; SIBLING; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON; SYMPTOM; GENE DELETION; GENETICS; HAPLOTYPE; HETEROZYGOTE; PEDIGREE; PRESCHOOL CHILD;

CEREBRAL HEMORRHAGE; CHILD, PRESCHOOL; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; HAPLOTYPES; HEMANGIOMA, CAVERNOUS, CENTRAL NERVOUS SYSTEM; HETEROZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MICROTUBULE-ASSOCIATED PROTEINS; PEDIGREE; PENETRANCE; PHENOTYPE; PROTO-ONCOGENE PROTEINS; SEQUENCE DELETION;

EID: 2642570296     PISSN: 14712377     EISSN: None     Source Type: Journal    
DOI: 10.1186/1471-2377-3-5     Document Type: Article

References (13)

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