Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis
| العنوان: | Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis |
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| المؤلفون: | Pierre Hutter, V. Membrez, F. Joris, Claudio Soravia, Daniel F. Schorderet, C. D. DeLozier-Blanchet, C. Rey-Berthod, Pierre O. Chappuis, A. Couturier, A. Murphy |
| المصدر: | Human Mutation, Vol. 18, No 6 (2001) P. 550 |
| بيانات النشر: | Hindawi Limited, 2001. |
| سنة النشر: | 2001 |
| مصطلحات موضوعية: | Adult, Male, DNA, Complementary, Adolescent, Adenomatous Polyposis Coli/genetics/pathology, Adenomatous polyposis coli, media_common.quotation_subject, Adenomatous Polyposis Coli Protein, DNA Mutational Analysis, Nonsense, Biology, medicine.disease_cause, Frameshift mutation, Familial adenomatous polyposis, DNA, Complementary/chemistry/genetics, Germline mutation, Genetics, medicine, Humans, Adenomatous Polyposis Coli Protein/genetics, Child, Gene, Germ-Line Mutation, Genetics (clinical), media_common, ddc:616, Family Health, Mutation, ddc:617, DNA, Middle Aged, medicine.disease, Phenotype, Adenomatous Polyposis Coli, DNA/chemistry/genetics, biology.protein, Female |
| الوصف: | Germ-line mutations in the 5' half of the Adenomatous Polyposis Coli (APC) gene are found in about 80% of the patients affected with familial adenomatous polyposis (FAP). The vast majority of these are nonsense or frameshift mutations which result in the loss of the carboxyl terminus of the APC protein. Using an in vivo assay in yeast, we have identified pathogenic germ-line mutations in 26 of 32 (81%) unrelated Swiss families affected with FAP. Nine mutations were novel and eight families were shown to harbor two recurrent mutations. Correlations were attempted between the location of APC germ-line mutations and clinical manifestations of the disease. |
| تدمد: | 1098-1004 1059-7794 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c48ef8ce57f0316c056e12e78183f843 https://doi.org/10.1002/humu.1242 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....c48ef8ce57f0316c056e12e78183f843 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10981004 10597794 |
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