A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome

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Veröffentlicht in:	Journal of medical genetics 2004-07, Vol.41 (7), p.567-572
Hauptverfasser:	Mangold, E, Pagenstecher, C, Leister, M, Mathiak, M, Rütten, A, Friedl, W, Propping, P, Ruzicka, T, Kruse, R
Format:	Artikel
Sprache:	eng
Schlagworte:	Adaptor Proteins, Signal Transducing Adenocarcinoma, Sebaceous - genetics Adult Aged Aged, 80 and over Biological and medical sciences Bladder cancer Carrier Proteins Colorectal cancer Colorectal Neoplasms, Hereditary Nonpolyposis - genetics denaturing high performance liquid chromatography Dermatology DHPLC DNA-Binding Proteins - genetics Family medical history Female Gastric cancer General aspects. Genetic counseling Genetic testing Genetic Testing - methods Genotype Genotype & phenotype genotype-phenotype correlation Germ-Line Mutation - genetics germline mutations hereditary non-polyposis colorectal cancer high microsatellite instability HNPCC Humans Hyperplasia Letter to JMG Male Medical genetics Medical sciences Middle Aged mismatch repair MLPA MMR MSH2 MSI-H MTS Muir-Torre syndrome multiplex ligation-dependent probe amplification Mutation Mutation - genetics MutL Protein Homolog 1 MutS Homolog 2 Protein Neoplasm Proteins - genetics Nuclear Proteins Patients Phenotype Protein expression protein truncation test Proto-Oncogene Proteins - genetics PTT Sebaceous Gland Neoplasms - genetics single strand conformation polymorphism SSCP Syndrome Tumors Tumors of the skin and soft tissue. Premalignant lesions Yeast
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ISSN:	0022-2593 1468-6244 1468-6244
DOI:	10.1136/jmg.2003.012997