𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A nonsense mutation at Arg-1947 in theNF1gene in a case of neurofibromatosis type 1 in a Korean patient

✍ Scribed by Kyoung Chan Park; Hyun Ok Choi; Kee Ho Park; Kyu Han Kim; Hee Chul Eun


Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
54 KB
Volume
45
Category
Article
ISSN
1435-232X

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Recurrence of a nonsense mutation in the
✍ Xavier Estivill; Conxi LΓ‘zaro; Teresa Casals; Anna Ravella πŸ“‚ Article πŸ“… 1991 πŸ› Springer 🌐 English βš– 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

RecurrentNF1 gene mutation in a patient
✍ Buske, Annegret; Gewies, Andreas; Lehmann, RοΏ½diger; RοΏ½ther, Klaus; Algermissen, πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 10 KB πŸ‘ 2 views

We report a 21-year-old male with symptomatic optic glioma who does not fulfill the diagnosis of neurofibromatosis 1 (NF1) according to standard NIH criteria. Analysis of the NF1 gene revealed a recurrent mutation in exon 37 (C6792A or Y2264X). This nonsense mutation causes skipping of exon 37 durin