Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation

Human Mutation

Volumn 33, Issue 2, 2012, Pages 411-418

  Tucker, Elena J ^a,b   Mimaki, Masakazu ^c   Compton, Alison G ^a   McKenzie, Matthew ^c,e   Ryan, Michael T ^c,d   Thorburn, David R ^a,b  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c LA TROBE UNIVERSITY   (Australia)

^d LA TROBE UNIVERSITY   (Australia)

^e HUDSON INSTITUTE OF MEDICAL RESEARCH   (Australia)

Author keywords

Next generation sequencing; Nubpl; Pathogenicity

Indexed keywords

COMPLEMENTARY DNA; NUBPL PROTEIN; PROTEIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CHROMOSOME; CHROMOSOME INVERSION; COMPUTER MODEL; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FOLLOW UP; GENE MUTATION; GENETIC VARIABILITY; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN CELL; LOCUS CERULEUS; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; NEXT GENERATION SEQUENCING; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ALLELES; ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; BASE SEQUENCE; ELECTRON TRANSPORT COMPLEX I; FIBROBLASTS; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE ORDER; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTRONS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; PROTEIN STABILITY; RNA SPLICE SITES; SEQUENCE ALIGNMENT;

EID: 84857794576     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21654     Document Type: Article

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