Upadhyaya, Meena, Huson, Susan M., Davies, Mark, Thomas, Nicholas Stuart Tudor, Chuzhanova, Nadia, Giovannini, S., Evans, D. Gareth, Howard, E., Kerr, B., Griffiths, S., Consoli, Claudia, Side, L., Adams, D., Pierpont, M., Hachen, R., Barnicoat, A., Liu, H., Wallace, P., Van Biervliet, J. P., Stevenson, D., Viskochil, D., Baralle, D., Haan, E., Riccardi, V., Turnpenny, P., Lazaro, C. and Messiaen, Ludwine 2007. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. American Journal of Human Genetics 80 (1) , pp. 140-151. 10.1086/510781 |
Official URL: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=...
Item Type: | Article |
---|---|
Date Type: | Publication |
Status: | Published |
Schools: | Medicine |
Subjects: | R Medicine > R Medicine (General) |
ISSN: | 15376605 |
Last Modified: | 04 Jun 2017 01:30 |
URI: | https://orca.cardiff.ac.uk/id/eprint/128 |
Citation Data
Cited 291 times in Scopus. View in Scopus. Powered By Scopus® Data
Actions (repository staff only)
Edit Item |