𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A Single Nucleotide Polymorphism in the HBBP1 Gene in the Human β-Globin Locus is Associated with a Mild β-Thalassemia Disease Phenotype

✍ Scribed by Giannopoulou, Emily; Bartsakoulia, Marina; Tafrali, Christina; Kourakli, Alexandra; Poulas, Konstantinos; Stavrou, Eleana F.; Papachatzopoulou, Adamantia; Georgitsi, Marianthi; Patrinos, George P.


Book ID
115527296
Publisher
Informa plc
Year
2012
Tongue
English
Weight
513 KB
Volume
36
Category
Article
ISSN
0363-0269

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


A substitution of cytosine for thymine i
✍ Yuji Naritomi; Yasushi Naito; Hitoshi Nakashima; Eisuke Yokota; Takashi Imamura 📂 Article 📅 1988 🏛 Springer 🌐 English ⚖ 725 KB

We have described a novel human globin gene mutation that produced in a Japanese family the beta-thalassemia phenotype through a post-translational mechanism. Substitution of proline for leucine at position 110 in the G-helix of the beta-globin chain greatly reduced the molecular stability of the be