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Minor Lesion Mutational Spectrum of the Entire NF1 Gene Does Not Explain Its High Mutability but Points to a Functional Domain Upstream of the GAP-Related Domain.

Authors :
Fashold, Raimund
Hoffmeyer, Sven
Mischung, Claudia
Gille, Christoph
Ehlers, Christian
Kucukceylan, Nazan
Abdel-Nour, Maher
Gewies, Andreas
Peters, Hartmut
Kaufmann, Dieter
Buske, Annegret
Tinschert, Sigrid
Nurnberg, Peter
Source :
American Journal of Human Genetics. Mar2000, Vol. 66 Issue 3. 1 Diagram, 6 Charts, 5 Graphs.
Publication Year :
2000

Abstract

Examines the mutational spectrum of the entire neurofibromatosis type 1 gene. Aberrations in the coding sequence and splice sites; Distribution of whole gene from exon 1 to exon 47; Identification of clustered missense in two genetic regions.

Details

Language :
English
ISSN :
00029297
Volume :
66
Issue :
3
Database :
Academic Search Index
Journal :
American Journal of Human Genetics
Publication Type :
Academic Journal
Accession number :
5074180
Full Text :
https://doi.org/10.1086/302809