Identification of rare defective allelic variants in cases of thiopurine S-methyltransferase deficie...
Identification of rare defective allelic variants in cases of thiopurine S-methyltransferase deficient activity
About this item
Full title
Author / Creator
Publisher
England: Future Medicine Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: Future Medicine Ltd
Subjects
More information
Scope and Contents
Contents
To assess rare
variants in patients carrying a deficient phenotype not predicted by the four more frequent genotypes
and
).
Next-generation sequencing of
in 39 patients with a discordant genotype.
None of the variants identified explained the discordances assuming that they are of uncertain significance according to the Clinical P...
Alternative Titles
Full title
Identification of rare defective allelic variants in cases of thiopurine S-methyltransferase deficient activity
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2455835453
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2455835453
Other Identifiers
ISSN
1462-2416
E-ISSN
1744-8042
DOI
10.2217/pgs-2020-0124
