| pubmed-article:16613914 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:16613914 | lifeskim:mentions | umls-concept:C0030705 | lld:lifeskim |
| pubmed-article:16613914 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:16613914 | lifeskim:mentions | umls-concept:C0062941 | lld:lifeskim |
| pubmed-article:16613914 | lifeskim:mentions | umls-concept:C0332285 | lld:lifeskim |
| pubmed-article:16613914 | lifeskim:mentions | umls-concept:C0694891 | lld:lifeskim |
| pubmed-article:16613914 | pubmed:issue | 10 | lld:pubmed |
| pubmed-article:16613914 | pubmed:dateCreated | 2006-10-18 | lld:pubmed |
| pubmed-article:16613914 | pubmed:abstractText | Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disease exhibiting multifocal vascular telangiectases and arteriovenous malformations. The majority of cases are caused by mutations in either the endoglin (ENG) or activin receptor-like kinase 1 (ALK1, ACVRL1) genes; both members of the transforming growth factor (TGF)-beta pathway. Mutations in SMAD4, another TGF-beta pathway member, are seen in patients with the combined syndrome of juvenile polyposis (JP) and HHT (JP-HHT). | lld:pubmed |
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| pubmed-article:16613914 | pubmed:language | eng | lld:pubmed |
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| pubmed-article:16613914 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:16613914 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:16613914 | pubmed:issn | 1468-6244 | lld:pubmed |
| pubmed-article:16613914 | pubmed:author | pubmed-author:GangulyAA | lld:pubmed |
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| pubmed-article:16613914 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:16613914 | pubmed:volume | 43 | lld:pubmed |
| pubmed-article:16613914 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:16613914 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:16613914 | pubmed:pagination | 793-7 | lld:pubmed |
| pubmed-article:16613914 | pubmed:dateRevised | 2009-11-19 | lld:pubmed |
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| pubmed-article:16613914 | pubmed:year | 2006 | lld:pubmed |
| pubmed-article:16613914 | pubmed:articleTitle | SMAD4 mutations found in unselected HHT patients. | lld:pubmed |
| pubmed-article:16613914 | pubmed:affiliation | Duke University Medical Center, Durham, NC 27710, USA. | lld:pubmed |
| pubmed-article:16613914 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:16613914 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| pubmed-article:16613914 | pubmed:publicationType | Multicenter Study | lld:pubmed |
| pubmed-article:16613914 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
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