Two familial cases of Hb Tyne confirm instability as cause of low expression
We report a second occurrence of hemoglobin (Hb) Tyne, [β5 (A2) Pro>Ser] HBB:c.16C>T(p.Pro6Ser), which like the first case was associated with normal hematology. We verified the variant was mildly unstable by showing it was greatly enriched in isopropanol precipitates. This minor instability a...
| Glavni autori: | , |
|---|---|
| Format: | Članak |
| Jezik: | English |
| Izdano: |
MDPI AG
2017-05-01
|
| Serija: | Thalassemia Reports |
| Teme: | |
| Online pristup: | http://www.pagepressjournals.org/index.php/thal/article/view/6504 |