| pubmed-article:16995886 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:16995886 | lifeskim:mentions | umls-concept:C0015576 | lld:lifeskim |
| pubmed-article:16995886 | lifeskim:mentions | umls-concept:C0439660 | lld:lifeskim |
| pubmed-article:16995886 | lifeskim:mentions | umls-concept:C0040052 | lld:lifeskim |
| pubmed-article:16995886 | lifeskim:mentions | umls-concept:C0836924 | lld:lifeskim |
| pubmed-article:16995886 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:16995886 | lifeskim:mentions | umls-concept:C0205307 | lld:lifeskim |
| pubmed-article:16995886 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:16995886 | pubmed:dateCreated | 2006-10-11 | lld:pubmed |
| pubmed-article:16995886 | pubmed:abstractText | Hereditary thrombocythaemia (HT) is an inherited autosomal dominant disorder. Recent studies reported six different mutations, four within the thrombopoietin (TPO) gene and two within c-Mpl (TPO receptor) gene in six unrelated families with HT. This study investigated the molecular basis of hereditary thrombocythaemia in an Israeli-Jewish family. We screened the genes for TPO and c-Mpl by amplification and sequencing of all the corresponding exons including exon/intron boundaries and promoters. In addition, plasma levels of TPO and erythropoietin (EPO) were measured. No abnormality in the TPO/c-Mpl genes has been identified in affected HT family members. Plasma TPO and EPO levels were found to be normal/low or normal respectively in the individuals affected. In conclusion, lack of a molecular lesion within either TPO or cMpl genes indicate that HT may be caused by factors other than TPO-cMpl axis in this family. | lld:pubmed |
| pubmed-article:16995886 | pubmed:language | eng | lld:pubmed |
| pubmed-article:16995886 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16995886 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:16995886 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16995886 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16995886 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16995886 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16995886 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16995886 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:16995886 | pubmed:month | Nov | lld:pubmed |
| pubmed-article:16995886 | pubmed:issn | 0007-1048 | lld:pubmed |
| pubmed-article:16995886 | pubmed:author | pubmed-author:InbalAA | lld:pubmed |
| pubmed-article:16995886 | pubmed:author | pubmed-author:DardikRR | lld:pubmed |
| pubmed-article:16995886 | pubmed:author | pubmed-author:RaananiPP | lld:pubmed |
| pubmed-article:16995886 | pubmed:author | pubmed-author:RabizadehEE | lld:pubmed |
| pubmed-article:16995886 | pubmed:author | pubmed-author:TecuceanuNN | lld:pubmed |
| pubmed-article:16995886 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:16995886 | pubmed:volume | 135 | lld:pubmed |
| pubmed-article:16995886 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:16995886 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:16995886 | pubmed:pagination | 348-51 | lld:pubmed |
| pubmed-article:16995886 | pubmed:meshHeading | pubmed-meshheading:16995886... | lld:pubmed |
| pubmed-article:16995886 | pubmed:meshHeading | pubmed-meshheading:16995886... | lld:pubmed |
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| pubmed-article:16995886 | pubmed:meshHeading | pubmed-meshheading:16995886... | lld:pubmed |
| pubmed-article:16995886 | pubmed:meshHeading | pubmed-meshheading:16995886... | lld:pubmed |
| pubmed-article:16995886 | pubmed:meshHeading | pubmed-meshheading:16995886... | lld:pubmed |
| pubmed-article:16995886 | pubmed:meshHeading | pubmed-meshheading:16995886... | lld:pubmed |
| pubmed-article:16995886 | pubmed:meshHeading | pubmed-meshheading:16995886... | lld:pubmed |
| pubmed-article:16995886 | pubmed:year | 2006 | lld:pubmed |
| pubmed-article:16995886 | pubmed:articleTitle | A family with hereditary thrombocythaemia and normal genes for thrombopoietin and c-Mpl. | lld:pubmed |
| pubmed-article:16995886 | pubmed:affiliation | Thrombosis and Haemostasis Unit, Beilinson Hospital, Rabin Medical Centre, Petah Tikva, Israel. | lld:pubmed |
| pubmed-article:16995886 | pubmed:publicationType | Journal Article | lld:pubmed |
