๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) gene

โœ Scribed by Peter J. Ainsworth; David I. Rodenhiser; M. Teresa Costa


Publisher
Springer
Year
1993
Tongue
English
Weight
884 KB
Volume
91
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Neurofibromatosis eurofibromatosis type
โœ Paola Origone; Carlo Bellini; Debora Sambarino; Barbara Banelli; Guido Morcaldi; ๐Ÿ“‚ Article ๐Ÿ“… 2003 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 154 KB ๐Ÿ‘ 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,

Characterization of six mutations in exo
โœ Upadhyaya, Meena; Osborn, Mike; Maynard, Julie; Harper, Peter ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 326 KB ๐Ÿ‘ 1 views

Neurofibromatosis type 1 ("1) is one of the most common inherited disorders, with an incidence of 1 in 3,000. We screened a total of 320 unrelated NF1 patients for mutations in exon 37 of the NF1 gene. Six independent mutations were identified, of which three are novel, and these include a recurrent