Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected].

doi:10.1002/humu.9166

Article

Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected].

Human mutation - 1 Aug 2003

Origone Paola, Bellini Carlo, Sambarino Debora, Banelli Barbara, Morcaldi Guido, La Rosa Carmen, Stanzial Franco, Castellan Claudio, Coviello Domenico A, Garrè Cecilia, Bonioli Eugenio

Abstract excerpt

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, and 46 of them were characterized by SSCP and direct sequencing. Eight mutations represent novel changes that...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected].

Abstract excerpt

Topics

Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected].

Abstract excerpt

Topics

Related research