Differential expression of novel naturally occurring splice variants of PTEN and their functional consequences in Cowden syndrome and sporadic breast cancer
Author:
Publisher
Oxford University Press (OUP)
Subject
Genetics(clinical),Genetics,Molecular Biology,General Medicine
Link
http://academic.oup.com/hmg/article-pdf/15/5/777/1619412/ddi492.pdf
Reference39 articles.
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2. Pilarski, R. and Eng, C. (2004) Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome. J. Med. Genet., 41, 323–326.
3. Nelen, M.R., Padberg, G.W., Peeters, E.A., Lin, A.Y., van den Helm, B., Frants, R.R., Coulon, V., Goldstein, A.M., van Reen, M.M., Easton, D.F. et al. (1996) Localization of the gene for Cowden disease to chromosome 10q22-23. Nat. Genet., 13, 114–116.
4. Marsh, D.J., Coulon, V., Lunetta, K.L., Rocca-Serra, P., Dahia, P.L., Zheng, Z., Liaw, D., Caron, S., Duboue, B., Lin, A.Y. et al. (1998) Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan–Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum. Mol. Genet., 7, 507–515.
5. Marsh, D.J., Kum, J.B., Lunetta, K.L., Bennett, M.J., Gorlin, R.J., Ahmed, S.F., Bodurtha, J., Crowe, C., Curtis, M.A., Dasouki, M. et al. (1999) PTEN mutation spectrum and genotype-phenotype correlations in Bannayan–Riley–Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum. Mol. Genet., 8, 1461–1472.
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