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Autor:
Klaus-Michael Keller, Siegfreid Uhlhaas, Waltraut Friedl, Manfred Stolte, Lone Sunde, Astrid Kaufmann, Elke Holinski-Feder, Stefan Aretz, Reiner Siebert, Stefanie Vogt, Stefan H Blaas, Dietlinde Stienen, Steffan Loff, Peter Propping, Mark M Entius, Stefanie Spranger, Walter Back
Publikováno v:
Aretz, S, Stienen, D, Uhlhaas, S, Stolte, M, Entius, M M, Loff, S, Back, W, Kaufmann, A, Keller, K-M, Blaas, S H, Siebert, R, Vogt, S, Spranger, S, Holinski-Feder, E, Sunde, L, Propping, P & Friedl, W 2007, ' High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. ', Journal of Medical Genetics, vol. 44, no. 11, pp. 702-9 . https://doi.org/10.1136/jmg.2007.052506
Aretz, S, Stienen, D, Uhlhaas, S, Stolte, M, Entius, M M, Loff, S, Back, W, Kaufmann, A, Keller, K M, Blaas, S H, Siebert, R, Vogt, S, Spranger, S, Holinski-Feder, E, Sunde, L, Propping, P & Friedl, W 2007, ' High proportion of large genomic deletions and a genotype-phenotype update in 80 unrelated families with juvenile polyposis syndrome ', Journal of Medical Genetics, vol. 44, no. 11, pp. 702-709 . https://doi.org/10.1136/jmg.2007.052506
Aretz, S, Stienen, D, Uhlhaas, S, Stolte, M, Entius, M M, Loff, S, Back, W, Kaufmann, A, Keller, K M, Blaas, S H, Siebert, R, Vogt, S, Spranger, S, Holinski-Feder, E, Sunde, L, Propping, P & Friedl, W 2007, ' High proportion of large genomic deletions and a genotype-phenotype update in 80 unrelated families with juvenile polyposis syndrome ', Journal of Medical Genetics, vol. 44, no. 11, pp. 702-709 . https://doi.org/10.1136/jmg.2007.052506
BACKGROUND: In patients with juvenile polyposis syndrome (JPS) the frequency of large genomic deletions in the SMAD4 and BMPR1A genes was unknown. METHODS: Mutation and phenotype analysis was used in 80 unrelated patients of whom 65 met the clinical