𝔖 Bobbio Scriptorium
✦   LIBER   ✦

An exon-skipping mutation in thebtk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency

✍ Scribed by Be´ne´dicte Duriez; Philippe Duquesnoy; Florence Dastot; Pierre Bougne`res; Serge Amselem; Michel Goossens


Book ID
115928958
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
627 KB
Volume
346
Category
Article
ISSN
0014-5793

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Molecular basis of very long chain acyl-
✍ Hiroh Watanabe; Kenji E. Orii; Toshiyuki Fukao; Xiang-Qian Song; Toshifumi Aoyam 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 343 KB 👁 3 views

Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is a life-threatening disorder of mitochondrial fatty acid beta-oxidation. We identified four novel mutations in three unrelated patients. All patients had the severe childhood form of VLCAD deficiency with early onset and high mortality. Imm