An absence of cutaneous neurofibromas associated with a 3-bp in-frame deletion in exon 17 of the NF1 gene (c.2970_2972 delAAT): Evidence of a clinically significant NF1 genotype-phenotype correlation

Upadhyaya, M, Huson, SM, Davies, M, Thomas, N, Chuzhanova, N ORCID: 0000-0002-4655-3618, Giovannini, S, Evans, DG, Howard, E, Kerr, B, Griffiths, S, Consoli, C, Side, L, Adams, D, Pierpoint, M, Hachen, R, Barnicoat, A, Li, H, Wallace, P, Stevenson, D, Viskochil, D, Baralle, D, Haan, E, Turnpenny, P, Riccardi, V, Lazaro, C and Messiaen, L, 2007. An absence of cutaneous neurofibromas associated with a 3-bp in-frame 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, pp. 140-151.

Full text not available from this repository.
Item Type: Journal article
Publication Title: American Journal of Human Genetics
Creators: Upadhyaya, M., Huson, S.M., Davies, M., Thomas, N., Chuzhanova, N., Giovannini, S., Evans, D.G., Howard, E., Kerr, B., Griffiths, S., Consoli, C., Side, L., Adams, D., Pierpoint, M., Hachen, R., Barnicoat, A., Li, H., Wallace, P., Stevenson, D., Viskochil, D., Baralle, D., Haan, E., Turnpenny, P., Riccardi, V., Lazaro, C. and Messiaen, L.
Date: 2007
Volume: 80
Divisions: Schools > School of Science and Technology
Depositing User: EPrints Services
Date Added: 09 Oct 2015 11:14
Last Modified: 09 Jun 2017 13:53
URI: http://irep.ntu.ac.uk/id/eprint/24896

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