A novel ϵγδβ thalassemia of 1.4 Mb deletion found in a Japanese patient
✍ Scribed by Chiemi Furuya; Yasuhiro Yamashiro; Yukio Hattori; Minako Hino; Hiroko Nishioka; Yoshihisa Shimizu; Kozue Okano; Keizou Horibe
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 164 KB
- Volume
- 83
- Category
- Article
- ISSN
- 0361-8609
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
We identified and characterized a novel beta(0)-thalassemia mutation due to partial deletion of the 5' end beta-globin gene including the mRNA cap site and a part of exon 1. The deletion was precisely 105 basepair (bp) in length extending from position -24 or -25 to +80 or +81 relative to the beta-g
Skeletal muscle AMP deaminase (AMPD: E.C. 3.5.4.6) deficiency is one of the most common inherited defects in the Caucasians, but not in Asians. Although a diagnosis of AMPD1 deficiency is indeed based on the reduced enzymatic activity, its clinical significance is still rather controversial since mo