A Rare IVS-I-2 (T>C) HBB Gene Mutation Diagnosed in a Child with Anemia
| Autor: | Loh C-Khai, Hafiza Alauddin, Norunaluwar Jalil, Azma Rz, Nur Zainura Mohamad, Zarina Abdul Latiff |
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| Rok vydání: | 2019 |
| Předmět: | |
| Zdroj: | Hemoglobin. 43:357-357 |
| ISSN: | 1532-432X 0363-0269 |
| Popis: | IVS-I-2 (T>C) (HBB: c.92 ± 2T>C) is a point mutation that affect the splice junction between the exon and intron of the HBB gene. The aberrant splicing site generates an abnormal mRNA. It is a rare... |
| Databáze: | OpenAIRE |
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