pubmed-article:8113408 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:8113408 | lifeskim:mentions | umls-concept:C0439660 | lld:lifeskim |
pubmed-article:8113408 | lifeskim:mentions | umls-concept:C0268382 | lld:lifeskim |
pubmed-article:8113408 | lifeskim:mentions | umls-concept:C0016006 | lld:lifeskim |
pubmed-article:8113408 | lifeskim:mentions | umls-concept:C0205419 | lld:lifeskim |
pubmed-article:8113408 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
pubmed-article:8113408 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
pubmed-article:8113408 | pubmed:issue | 2 | lld:pubmed |
pubmed-article:8113408 | pubmed:dateCreated | 1994-3-30 | lld:pubmed |
pubmed-article:8113408 | pubmed:abstractText | Two families with hereditary renal amyloidosis were found to have a novel mutation in the fibrinogen A alpha chain gene. This form of amyloidosis is an autosomal dominant condition characterized by proteinuria, hypertension, and subsequent azotemia. DNAs of patients with amyloidosis were screened for a polymorphism in fibrinogen A alpha chain gene by single-strand conformation polymorphism analysis, and affected individuals from two kindreds were found to have a mutation. Both of these kindreds are American of Irish descent presenting with non-neuropathic, nephropathic amyloidosis in the fifth to the seventh decade of life. DNA sequencing showed a point mutation in the fibrinogen A alpha chain gene that is responsible for substitution of valine for glutamic acid at position 526. By restriction fragment length polymorphism analysis, 7 affected individuals and 14 asymptomatic individuals in these two kindreds were positive for the fibrinogen A alpha chain Val 526 gene. Fibrinogen was isolated from plasma of a heterozygous gene carrier and shown to contain approximately 50% variant fibrinogen. Discovery of this new mutation confirms the association between fibrinogen A alpha chain variant and hereditary renal amyloidosis and establishes a new biochemical subtype of amyloidosis. | lld:pubmed |
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pubmed-article:8113408 | pubmed:language | eng | lld:pubmed |
pubmed-article:8113408 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:8113408 | pubmed:citationSubset | AIM | lld:pubmed |
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pubmed-article:8113408 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:8113408 | pubmed:month | Feb | lld:pubmed |
pubmed-article:8113408 | pubmed:issn | 0021-9738 | lld:pubmed |
pubmed-article:8113408 | pubmed:author | pubmed-author:BensonM DMD | lld:pubmed |
pubmed-article:8113408 | pubmed:author | pubmed-author:LiepnieksJ... | lld:pubmed |
pubmed-article:8113408 | pubmed:author | pubmed-author:UemichiTT | lld:pubmed |
pubmed-article:8113408 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:8113408 | pubmed:volume | 93 | lld:pubmed |
pubmed-article:8113408 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:8113408 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:8113408 | pubmed:pagination | 731-6 | lld:pubmed |
pubmed-article:8113408 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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pubmed-article:8113408 | pubmed:meshHeading | pubmed-meshheading:8113408-... | lld:pubmed |
pubmed-article:8113408 | pubmed:year | 1994 | lld:pubmed |
pubmed-article:8113408 | pubmed:articleTitle | Hereditary renal amyloidosis with a novel variant fibrinogen. | lld:pubmed |
pubmed-article:8113408 | pubmed:affiliation | Department of Medicine, Indiana University, Indianapolis. | lld:pubmed |
pubmed-article:8113408 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:8113408 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
pubmed-article:8113408 | pubmed:publicationType | Research Support, U.S. Gov't, Non-P.H.S. | lld:pubmed |
pubmed-article:8113408 | pubmed:publicationType | Case Reports | lld:pubmed |
pubmed-article:8113408 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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