High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome

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

期刊名称Journal of Medical Genetics
作者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
卷第44卷
期第11期
电子ISSN1468-6244
文件大小523.89KB
发表时间2007-08-23
DOI10.1136/jmg.2007.052506
页码702-709

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High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome