Please use this identifier to cite or link to this item:
https://doi.org/10.1038/s41439-021-00167-5
| DC Field | Value | |
|---|---|---|
| dc.title | A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant | |
| dc.contributor.author | Poon, KS | |
| dc.contributor.author | Tan, KML | |
| dc.contributor.author | Loke, KY | |
| dc.date.accessioned | 2021-11-17T07:58:03Z | |
| dc.date.available | 2021-11-17T07:58:03Z | |
| dc.date.issued | 2021-12-01 | |
| dc.identifier.citation | Poon, KS, Tan, KML, Loke, KY (2021-12-01). A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant. Human Genome Variation 8 (1) : 35-. ScholarBank@NUS Repository. https://doi.org/10.1038/s41439-021-00167-5 | |
| dc.identifier.issn | 2054-345X | |
| dc.identifier.uri | https://scholarbank.nus.edu.sg/handle/10635/206585 | |
| dc.description.abstract | An infant with 46,XY karyotype, and unambiguous female phenotype was found to have testes in the inguinal regions. Capillary sequencing of the androgen receptor (AR) gene identified a hemizygous de novo mutation (NM_000044.6:c.1621G > T) in exon 2 resulting in a termination codon p.(Glu541*) at the DNA binding domain (DBD). This novel nonsense mutation adds to the compendium of AR mutations which result in complete androgen insensitivity syndrome (AIS). | |
| dc.publisher | Springer Science and Business Media LLC | |
| dc.source | Elements | |
| dc.type | Article | |
| dc.date.updated | 2021-11-11T02:01:33Z | |
| dc.contributor.department | PAEDIATRICS | |
| dc.description.doi | 10.1038/s41439-021-00167-5 | |
| dc.description.sourcetitle | Human Genome Variation | |
| dc.description.volume | 8 | |
| dc.description.issue | 1 | |
| dc.description.page | 35- | |
| dc.published.state | Published | |
| Appears in Collections: | Staff Publications Elements | |
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| File | Description | Size | Format | Access Settings | Version | |
|---|---|---|---|---|---|---|
| A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant.pdf | 794.39 kB | Adobe PDF | OPEN | Published | View/Download |
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