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Menin mutations in patients with multiple endocrine neoplasia type 1.
| Content Provider | Semantic Scholar |
|---|---|
| Author | Mayr, Birgit Apenberg, S. Rothämel, Thomas Mühlen, Alexander Von Zur Brabant, Georg |
| Copyright Year | 1997 |
| Abstract | Multiple endocrine neoplasia type 1 (MEN-1) is a familial cancer syndrome with parathyroid, pituitary and enteropancreatic tumors. The disease phenotype segregates with markers on chromosome 11q13. Very recently a new gene was cloned from this region and was found to carry mutations in 14 of 15 unrelated MEN-1 patients. The gene was termed menin and is predicted to code for a tumor suppressor protein of 610 amino acids, but its precise function is totally unknown. To confirm this finding we used PCR from genomic DNA and direct sequencing to analyze exons 2 through 10 of the menin gene in eight patients from four pedigrees with MEN-1 syndrome or an affected relative. We identified four different heterozygous mutations, three of them are novel: one nonsense mutation, one large deletion of 32 bp and two insertions, all of them located in exon 2. Our results confirm that patients with MEN-1 carry mutations in the menin gene. |
| Starting Page | 35 |
| Ending Page | 44 |
| Page Count | 10 |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | https://eje.bioscientifica.com/downloadpdf/journals/eje/137/6/684.pdf |
| Alternate Webpage(s) | http://www.eje-online.org/content/137/6/684.full.pdf |
| PubMed reference number | 9437237v1 |
| Volume Number | 137 |
| Issue Number | 6 |
| Journal | European journal of endocrinology |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | 11q13 Amino Acids Clinical act of insertion Cri-du-Chat Syndrome Deletion Mutation Direct Sequencing Endocrine Gland Neoplasms Exons Hereditary Malignant Neoplasm MEN1 gene Multiple Endocrine Neoplasia Type 1 Multiple Endocrine Neoplasia Type 2a Neoplastic Syndromes, Hereditary Nonsense mutation Patients Tumor Suppressor Genes Tumor Suppressor Proteins |
| Content Type | Text |
| Resource Type | Article |
