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

Tucker, Elena J, Mimaki, Masakazu, Compton, Alison G, McKenzie, Matthew, Ryan, Michael T and Thorburn, David R 2012, Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation, Human mutation, vol. 33, no. 2, pp. 411-418, doi: 10.1002/humu.21654.

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Title Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation
Author(s) Tucker, Elena J
Mimaki, Masakazu
Compton, Alison G
McKenzie, MatthewORCID iD for McKenzie, Matthew orcid.org/0000-0001-7508-1800
Ryan, Michael T
Thorburn, David R
Journal name Human mutation
Volume number 33
Issue number 2
Start page 411
End page 418
Total pages 8
Publisher John Wiley & Sons
Place of publication Chichester, Eng.
Publication date 2012-02
ISSN 1059-7794
1098-1004
Keyword(s) next-generation sequencing
pathogenicity
NUBPL
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
human body
introns
mitochondria
mitochondrial diseases
mitochondrial proteins
molecular diagnostic techniques
mutation
protein stability
RNA splice sites
sequence alignment
science & technology
life sciences & biomedicine
genetics & heredity
Language eng
DOI 10.1002/humu.21654
Field of Research 0604 Genetics
1103 Clinical Sciences
Copyright notice ©2011, Wiley Periodicals, Inc.
Persistent URL http://hdl.handle.net/10536/DRO/DU:30112315

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