𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A novel germline mutation in exon 5 of the multiple endocrine neoplasia type 1 gene

✍ Scribed by A. Chico; Luis Gallart; Eugenia Mato; Carmen Mayoral; Jesus M. Martin-Campos; Lluís Catasús; Jose Rodriguez-Espinosa; Xavier Matías-Guiu; Francisco Blanco-Vaca; Alberto de Leiva

Publisher
Springer
Year
1998
Tongue
English
Weight
207 KB
Volume
76
Category
Article
ISSN
0946-2716

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Germline mutations in the multiple endoc
Germline mutations in the multiple endocrine neoplasia type 1 gene: Evidence for frequent splicing defects
✍ Matthew G. Mutch; William G. Dilley; Francisco Sanjurjo; Mary K. DeBenedetti; Ge 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 463 KB 👁 1 views

Multiple endocrine neoplasia type 1 (MEN 1) is a familial cancer syndrome characterized by parathyroid hyperplasia, pituitary adenomas, and neuroendocrine tumors of the pancreas and duodenum. In 1997, the MEN1 tumor suppressor gene was identified, and numerous germline mutations have been reported t

Risk profiles and penetrance estimations
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10
✍ Karin Frank-Raue; Lisa A. Rybicki; Zoran Erlic; Heiko Schweizer; Aurelia Winter; 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 239 KB

Multiple endocrine neoplasia type 2 is characterized by germline mutations in RET. For exon 10, comprehensive molecular and corresponding phenotypic data are scarce. The International RET Exon 10 Consortium, comprising 27 centers from 15 countries, analyzed patients with RET exon 10 mutations for cl

Mutation analysis of the MEN1 gene in Be
Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases
✍ Jacques Poncin; Roger Abs; Brigitte Velkeniers; Maryse Bonduelle; Marc Abramowic 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 378 KB 👁 2 views

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in parathyroids, enteropancreatic endocrine tissues, anterior pituitary, and other tissues. The gene for MEN1 has recently been cloned and shown to code for a 610-amino acid protein of enigmatic func