𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Hereditary surfactant protein B deficiency resulting from a novel mutation

✍ Scribed by M. Somaschini; S. Wert; G. Mangili; A. Colombo; L. Nogee


Publisher
Springer
Year
2000
Tongue
English
Weight
216 KB
Volume
26
Category
Article
ISSN
1432-1238

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Origin of the prevalent SFTPB indel g.15
✍ Mohammed Tredano; David N. Cooper; Manfred Stuhrmann; John Christodoulou; Nadia πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 285 KB

## Abstract The __SFTPB__ gene indel g.1549C > GAA (121ins2) accounts for about 2/3 of the mutant alleles underlying complete surfactant protein B deficiency. It is unclear, however, whether its prevalence is due to recurrent mutation or a founder effect. The underlying mutational mechanism was the