Applying and testing the conveniently optimized enzyme mismatch cleavage method to clinical DNA diagnosis

Molecular Genetics and Metabolism

Volumn 107, Issue 3, 2012, Pages 580-585

  Niida, Yo ^a,b   Kuroda, Mondo ^a   Mitani, Yusuke ^a   Okumura, Akiko ^a   Yokoi, Ayano ^a  

^a KANAZAWA UNIVERSITY   (Japan)

^b KANAZAWA MEDICAL UNIVERSITY   (Japan)

Author keywords

CEL nuclease; Enzyme mismatch cleavage; Genetic diagnosis; Mutation screening test

Indexed keywords

DNA; WERNER SYNDROME PROTEIN;

ADULT; ANALYZER; ARTICLE; BONE DYSPLASIA; CASE REPORT; CATARACT; CEL NUCLEASE MEDIATED HETERODUPLEX INCISION WITH POLYACRYLAMIDE GEL ELECTROPHORESIS AND SILVER STAINING; CHILD; CLEFT PALATE; CLINICAL PRACTICE; COFFIN LOWRY SYNDROME; COL2A1 GENE; CONSANGUINEOUS MARRIAGE; CORNEA ULCER; COST BENEFIT ANALYSIS; DEVELOPMENTAL DISORDER; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; EXON; GAIT DISORDER; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC COMPATIBILITY; GENETIC PROCEDURES; GENETIC SCREENING; GENETIC VARIABILITY; HEARING IMPAIRMENT; HUMAN; HUMAN TISSUE; HYPERTELORISM; HYPOGONADISM; INFANT; LEUKEMIA; MALE; MICROGNATHIA; MOLECULAR DIAGNOSIS; MYOPIA; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROCESS OPTIMIZATION; RETINA DETACHMENT; SENSITIVITY AND SPECIFICITY; SKIN ATROPHY; STICKLER SYNDROME; WERNER SYNDROME;

ARTHRITIS; BASE SEQUENCE; BIOLOGICAL ASSAY; CHILD, PRESCHOOL; COFFIN-LOWRY SYNDROME; COLLAGEN TYPE II; CONNECTIVE TISSUE DISEASES; DNA RESTRICTION ENZYMES; ELECTROPHORESIS, POLYACRYLAMIDE GEL; EXODEOXYRIBONUCLEASES; EXONS; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEIC ACID HETERODUPLEXES; RECQ HELICASES; REPRODUCIBILITY OF RESULTS; RETINAL DETACHMENT; RIBOSOMAL PROTEIN S6 KINASES, 90-KDA; SENSITIVITY AND SPECIFICITY; SILVER STAINING; WERNER SYNDROME;

EID: 84867897973     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.09.008     Document Type: Article

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