𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency

✍ Scribed by Astrid Golla; Annette Deufel; Christa Aulehla-Scholz; Ingolf Böhm; Bruno Hilz; Thomas Meitinger; Thomas Deufel

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
226 KB
Volume
3
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel missense mutation in exon 16 of
A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients
✍ Thierry Bienvenu; Dominique Hubert; Eric Setbon; Daniel Dusser; Jean-Claude Kapl 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 106 KB 👁 2 views

## MUTATION NOTES nucleotides downstream the original splice site in intron 3. Assuming that this would be used in the patient as donor splice site, the inclusion of 4 intronic nucleotides, frameshift, and thereby an immediate termination of translation would occur, most likely resulting in a null

A novel nonsense mutation, S466Xa in exo
A novel nonsense mutation, S466Xa in exon 10 of the cystic fibrosis transmembrane conductance regulator gene
✍ H. Mittre; M. Barre; P. Leymarie 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 225 KB 👁 1 views

Lipoprotein lipase (LPL) catalyzes the hydrolysis of the core triacylglycerols of plasma very low density lipoproteins (VLDL) and chylomicrons . It thus controls a crucial step in the metabolism of triglycerides of exogenous and endogenous origin. Inherited LPL deficiency is clinically expressed as