| pubmed-article:20497437 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:20497437 | lifeskim:mentions | umls-concept:C0027662 | lld:lifeskim |
| pubmed-article:20497437 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:20497437 | lifeskim:mentions | umls-concept:C0009221 | lld:lifeskim |
| pubmed-article:20497437 | lifeskim:mentions | umls-concept:C2717879 | lld:lifeskim |
| pubmed-article:20497437 | lifeskim:mentions | umls-concept:C0694890 | lld:lifeskim |
| pubmed-article:20497437 | lifeskim:mentions | umls-concept:C0543431 | lld:lifeskim |
| pubmed-article:20497437 | lifeskim:mentions | umls-concept:C1516615 | lld:lifeskim |
| pubmed-article:20497437 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:20497437 | pubmed:dateCreated | 2010-12-14 | lld:pubmed |
| pubmed-article:20497437 | pubmed:abstractText | Multiple endocrine neoplasia type 2 (MEN 2) is a genetic syndrome caused by germline mutations in the RET proto-oncogene. These mutations cause changes in either the cysteine-rich extracellular domain or, less commonly, the non-cysteine intracellular domains of the RET protein. The genotype-phenotype correlations of classical cysteine RET mutations have been the subject of several comprehensive reviews. Less is known about the characteristics of the non-cysteine RET mutations. Studies of familial medullary thyroid cancer and MEN 2A kindreds carrying non-cysteine RET mutations have revealed a wide array of phenotypes, variable penetrance, and a diverse clinical course. The observed heterogeneity in disease expression has important diagnostic, therapeutic and prognostic implications. This review summarizes the genotypic and phenotypic characteristics of RET codon 804 mutation, a prototype for the less well-defined non-cysteine RET mutations associated with MEN 2. | lld:pubmed |
| pubmed-article:20497437 | pubmed:language | eng | lld:pubmed |
| pubmed-article:20497437 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20497437 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:20497437 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20497437 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20497437 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20497437 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:20497437 | pubmed:month | Jan | lld:pubmed |
| pubmed-article:20497437 | pubmed:issn | 1399-0004 | lld:pubmed |
| pubmed-article:20497437 | pubmed:author | pubmed-author:MukherjeeSS | lld:pubmed |
| pubmed-article:20497437 | pubmed:author | pubmed-author:ZakalikDD | lld:pubmed |
| pubmed-article:20497437 | pubmed:copyrightInfo | © 2010 John Wiley & Sons A/S. | lld:pubmed |
| pubmed-article:20497437 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:20497437 | pubmed:volume | 79 | lld:pubmed |
| pubmed-article:20497437 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:20497437 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:20497437 | pubmed:pagination | 1-16 | lld:pubmed |
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| pubmed-article:20497437 | pubmed:year | 2011 | lld:pubmed |
| pubmed-article:20497437 | pubmed:articleTitle | RET codon 804 mutations in multiple endocrine neoplasia 2: genotype-phenotype correlations and implications in clinical management. | lld:pubmed |
| pubmed-article:20497437 | pubmed:affiliation | Beaumont Cancer Genetics Program, Beaumont Cancer Institute, William Beaumont Hospital, Royal Oak, MI 48073, USA. Sudipto.Mukherjee@beaumont.edu | lld:pubmed |
| pubmed-article:20497437 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:20497437 | pubmed:publicationType | Review | lld:pubmed |
| entrez-gene:5979 | entrezgene:pubmed | pubmed-article:20497437 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:20497437 | lld:entrezgene |
