Mutations in the a-galactosidase A (a-Gal A, GLA) gene cause Fabry disease, an X-linked recessive lysosomal storage disease. The majority of mutations are private, and confirmation of carrier status in females requires the definitive identification of a DNA mutation. In addition, knowledge of a fami
Molecular assay of −α3.7 and −α4.2 deletions causing α-thalassemia by denaturing high-performance liquid chromatography
✍ Scribed by Chia-Cheng Hung; Chien-Nan Lee; Chih-Ping Chen; Yuh-Jyh Jong; Wu-Shiun Hsieh; Win-Li Lin; Yi-Ning Su; Su-Ming Hsu
- Book ID
- 108095438
- Publisher
- Elsevier Science
- Year
- 2007
- Tongue
- English
- Weight
- 320 KB
- Volume
- 40
- Category
- Article
- ISSN
- 0009-9120
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## Abstract __Background__: Multiplex ligation‐dependent probe amplification (MLPA) has been used to detect deletions and mutations of the α‐globin gene for diagnosis of α‐thalassemia. MLPA reaction products are usually separated and analyzed by high‐voltage capillary gel electrophoresis (CGE). The