Deep intronic mutations and human disease
Deep intronic mutations and human disease
About this item
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Author / Creator
Publisher
Berlin/Heidelberg: Springer Nature
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Language
English
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Publisher
Berlin/Heidelberg: Springer Nature
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Contents
© Springer-Verlag Berlin Heidelberg 2017
Next-generation sequencing has revolutionized clinical diagnostic testing. Yet, for a substantial proportion of patients, sequence information restricted to exons and exon-intron boundaries fails to identify the genetic cause of the disease. Here we review evidence from mRNA analysis and entire genomic se...
Alternative Titles
Full title
Deep intronic mutations and human disease
Authors, Artists and Contributors
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Record Identifier
TN_cdi_proquest_miscellaneous_1899116331
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1899116331
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-017-1809-4
