𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A new nonsense mutation in the NF1 gene with neurofibromatosis–Noonan syndrome phenotype

✍ Scribed by Yimenicioğlu, Sevgi; Yakut, Ayten; Karaer, Kadri; Zenker, Martin; Ekici, Arzu; Çarman, Kürşat Bora


Book ID
118783286
Publisher
Springer
Year
2012
Tongue
English
Weight
159 KB
Volume
28
Category
Article
ISSN
0256-7040

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Novel recurrent nonsense mutation causin
✍ Bahuau, Michel; Houdayer, Claude; Assouline, Brigitte; Blanchet-Bardon, Claudine 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 30 KB 👁 2 views

Neurofibromatosis type 1 (NF1), a genetic disorder with neuroectodermal involvement, demonstrates phenotypic overlap in some patients with Noonan syndrome (NS), ultimately resulting in the so-called neurofibromatosis-Noonan syndrome (NF-NS). A strong association of the two phenotypic traits was rece

Recurrence of a nonsense mutation in the
✍ Xavier Estivill; Conxi Lázaro; Teresa Casals; Anna Ravella 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 421 KB

The gene responsible for von Recklinghausen neurofibromatosis (NF1) has recently been identified, and several point mutations and deletions have been described. The availability of intron-exon boundaries of several exons of the NF1 gene facilitates the search for mutations in affected patients. We h