| Autor: |
Ming-Li, Xu, Jia-Chun, Qin, Bi-Yan, Chen, Xue-Xi, Yang, Hai-Ping, Liu, Wei-Xi, Yuan, Jian-Mei, Zhong, Li-Min, Huang, Wan-Jun, Zhou |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
Hemoglobin. 44(4) |
| ISSN: |
1532-432X |
| Popis: |
Thalassemia is the most common monogenic disorder around the world. Based on the principle of genotype-phenotype correlation, identification of thalassemia mutations is the essential prerequisite for clinical diagnosis and management. Because only common mutations are routinely detected, the identification of rare or undetermined mutations is a challenge for clinical laboratories. Herein, a proband presenting with inconsistent phenotype-genotype correlation after routine molecular screening was investigated by multiplex ligation-dependent probe amplification (MLPA), targeted-next generation sequencing (targeted-NGS), gap-polymerase chain reaction (gap-PCR) and Sanger sequencing. Eventually, a novel 71.8 kb deletion (- |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
|
