𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Analysis of NF1 Gene Mutations in Neurofibromatosis Type 1 Patients in Japan

✍ Scribed by N. Hatta; T. Horiuchi; S. Fujita

Book ID
115574250
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
391 KB
Volume
199
Category
Article
ISSN
0006-291X

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

RecurrentNF1 gene mutation in a patient
RecurrentNF1 gene mutation in a patient with oligosymptomatic neurofibromatosis type 1 (NF1)
✍ 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

Neurofibromatosis eurofibromatosis type
Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients
✍ Paola Origone; Carlo Bellini; Debora Sambarino; Barbara Banelli; Guido Morcaldi; πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 154 KB πŸ‘ 1 views

In the present study the entire NF1 coding region was analyzed for mutations in 132 unrelated Italian NF1 patients. Using PTT, SSCP, and DNA sequencing, we found 8 novel mutations. Clinical diagnosis of NF1 was established according to the NIH consensus criteria. We detected 59 truncated fragments,