Assessment of haloplex amplification for sequence capture and massively parallel sequencing of arrhythmogenic right ventricular cardiomyopathy-associated genes

Journal of Molecular Diagnostics

Volumn 17, Issue 1, 2015, Pages 31-42

  Gréen, Anna ^a,c   Gréen, Henrik ^b,d,e   Rehnberg, Malin ^a,c   Svensson, Anneli ^b,c   Gunnarsson, Cecilia ^a,c   Jonasson, Jon ^a,c  

^a LINKÖPING UNIVERSITY HOSPITAL   (Sweden)

^b LINKÖPING UNIVERSITY   (Sweden)

^c Department of Clinical Immunology and Transfusion Medicine   (Sweden)

^d National Board of Forensic Medicine   (Sweden)

^e ROYAL INSTITUTE OF TECHNOLOGY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; DESMOCOLLIN; DESMOGLEIN; DESMOGLEIN 2; DESMOPLAKIN; PLAKOGLOBIN; PLAKOPHILIN; TRANSFORMING GROWTH FACTOR BETA3;

ARTICLE; BIOINFORMATICS; CLINICAL ARTICLE; CONTROLLED STUDY; DESMOSOME; DEVICES; DNA FRAGMENTATION; EXON; GENE AMPLIFICATION; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; GOLD STANDARD; HEART MUSCLE; HEART RIGHT VENTRICLE DYSPLASIA; HIGH THROUGHPUT SEQUENCING; HUMAN; INDEL MUTATION; INTRON; METABOLISM; MOLECULAR GENETICS; MUTATION; NEXT GENERATION SEQUENCING; NUCLEIC ACID AMPLIFICATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; QUALITY CONTROL; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; STANDARDS;

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; BASE SEQUENCE; BIOLOGICAL MARKERS; DESMOCOLLINS; DESMOGLEINS; DESMOPLAKINS; DESMOSOMES; GENE EXPRESSION; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENETICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INSTRUMENTATION; METABOLISM; MOLECULAR SEQUENCE DATA; MUTATION; MYOCARDIUM; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PATHOLOGY; PHYSIOPATHOLOGY; PLAKOPHILINS; SENSITIVITY AND SPECIFICITY; STANDARDS;

EID: 84964307877     PISSN: 15251578     EISSN: 19437811     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2014.09.006     Document Type: Article

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