𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

✍ Scribed by Weedon, Michael N; Cebola, Inês; Patch, Ann-Marie; Flanagan, Sarah E; De Franco, Elisa; Caswell, Richard; Rodríguez-Seguí, Santiago A; Shaw-Smith, Charles; Cho, Candy H-H; Allen, Hana Lango; Houghton, Jayne A L; Roth, Christian L; Chen, Rongrong; Hussain, Khalid; Marsh, Phil; Vallier, Ludovic; Murray, Anna; Ellard, Sian; Ferrer, Jorge; Hattersley, Andrew T


Book ID
121712709
Publisher
Nature Publishing Group
Year
2013
Tongue
English
Weight
654 KB
Volume
46
Category
Article
ISSN
1061-4036

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Recessive mutations in RYR1 are a common
✍ Nigel F. Clarke; Leigh B. Waddell; Sandra T. Cooper; Margaret Perry; Robert L.L. 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 531 KB

The main histological abnormality in congenital fiber type disproportion (CFTD) is hypotrophy of type 1 (slow twitch) fibers compared to type 2 (fast twitch) fibers. To investigate whether mutations in RYR1 are a cause of CFTD we sequenced RYR1 in seven CFTD families in whom the other known causes o