Two novel mutations and a previously unreported intronic polymorphism in the NOTCH3 gene

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 732, Issue 1-2, 2012, Pages 3-8

  Roy, B ^a   Maksemous, N ^a   Smith, R A ^a   Menon, S ^a   Davies, G ^a   Griffiths, L R ^a  

^a GRIFFITH UNIVERSITY   (Australia)

Author keywords

CADASIL; NOTCH3; Novel mutations; Polymorphism

Indexed keywords

ALANINE; EPIDERMAL GROWTH FACTOR; NOTCH3 RECEPTOR; NOTCH RECEPTOR; NOTCH3 PROTEIN, HUMAN;

ARTICLE; CADASIL; CONTROLLED STUDY; CORRELATION ANALYSIS; DNA POLYMORPHISM; EXON; FEMALE; GENE; GENE ACTIVITY; GENE FUNCTION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; NOTCH3 GENE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA SPLICING; AGED; AMINO ACID SUBSTITUTION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETICS; MIDDLE AGED;

AGED; AMINO ACID SUBSTITUTION; CADASIL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INTRONS; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; RECEPTORS, NOTCH;

EID: 84862819946     PISSN: 00275107     EISSN: 09218262     Source Type: Journal    
DOI: 10.1016/j.mrfmmm.2012.02.004     Document Type: Article

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