A novel mutation screening system for Ehlers-Danlos Syndrome, vascular type by high-resolution melting curve analysis in combination with small amplicon genotyping using genomic DNA

Biochemical and Biophysical Research Communications

Volumn 405, Issue 3, 2011, Pages 368-372

  Naing, Banyar Than ^a   Watanabe, Atsushi ^a,b   Shimada, Takashi ^a,b  

^a NIPPON MEDICAL SCHOOL   (Japan)

^b NIPPON MEDICAL SCHOOL HOSPITAL   (Japan)

Author keywords

COL3A1; Ehlers Danlos syndrome, vascular type (vEDS); High resolution melting curve analysis (hrMCA); Mutation screening

Indexed keywords

GENOMIC DNA; PRIMER DNA; PROCOLLAGEN; RNA; TYPE 3 PROCOLLAGEN; UNCLASSIFIED DRUG;

AMPLICON; ARTICLE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC TEST ACCURACY STUDY; DNA DENATURATION; EHLERS DANLOS SYNDROME; FIBROBLAST; FRAMESHIFT MUTATION; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC IDENTIFICATION; GENETIC SCREENING; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE DETECTION; HIGH RESOLUTION MELTING CURVE ANALYSIS; HUMAN; HUMAN TISSUE; INVASIVE PROCEDURE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SPLICING; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN BIOPSY; VALIDATION PROCESS;

COLLAGEN TYPE III; DNA PRIMERS; EHLERS-DANLOS SYNDROME; GENETIC TESTING; GENOTYPE; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; TRANSITION TEMPERATURE;

EID: 79951576502     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2011.01.011     Document Type: Article

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