𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Patterns and Mutational Signatures of Tandem Base Substitutions Causing Human Inherited Disease

✍ Scribed by Chen, Jian-Min; Férec, Claude; Cooper, David N.


Book ID
125805523
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
691 KB
Volume
34
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Single base-pair substitutions at the tr
✍ Andreas Wolf; Amke Caliebe; Nick S.T. Thomas; Edward V. Ball; Matthew Mort; Pete 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 236 KB

A total of 405 unique single base-pair substitutions, located within the ATG translation initiation codons (TICs) of 255 different genes, and reported to cause human genetic disease, were retrieved from the Human Gene Mutation Database (HGMD). Although these lesions comprised only 0.7% of coding seq