| pubmed-article:9713825 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9713825 | lifeskim:mentions | umls-concept:C0035366 | lld:lifeskim |
| pubmed-article:9713825 | lifeskim:mentions | umls-concept:C0015625 | lld:lifeskim |
| pubmed-article:9713825 | lifeskim:mentions | umls-concept:C0936012 | lld:lifeskim |
| pubmed-article:9713825 | lifeskim:mentions | umls-concept:C0020985 | lld:lifeskim |
| pubmed-article:9713825 | lifeskim:mentions | umls-concept:C1517499 | lld:lifeskim |
| pubmed-article:9713825 | lifeskim:mentions | umls-concept:C2003942 | lld:lifeskim |
| pubmed-article:9713825 | pubmed:issue | 7 | lld:pubmed |
| pubmed-article:9713825 | pubmed:dateCreated | 1998-10-22 | lld:pubmed |
| pubmed-article:9713825 | pubmed:abstractText | Fanconi anemia (FA) is an autosomal recessive cancer susceptibility syndrome with at least eight complementation groups (A-H). Two of the FA genes (FAA and FAC) have been cloned, and mutations in these genes account for approximately 80% of FA patients. Subtyping of FA patients is an important first step toward identifying candidates for FA gene therapy. In the current study, we analyzed a reference group of 26 FA patients of known subtype. Most of the patients (18/26) were confirmed as either type A or type C by immunoblot analysis with anti-FAA and anti-FAC antisera. In order to resolve the subtype of the remaining patients, we generated retroviral constructs expressing FAA and FAC for transduction of FA cell lines (pMMP-FAA and pMMP-FAC). The pMMP-FAA construct specifically complemented the abnormal phenotype of cell lines from FA-A patients, while pMMP-FAC complemented FA-C cells. In summary, the combination of immunoblot analysis and retroviral-mediated phenotypic correction of FA cells allows a rapid method of FA subtyping. | lld:pubmed |
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| pubmed-article:9713825 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9713825 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9713825 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:9713825 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9713825 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:9713825 | pubmed:issn | 1076-1551 | lld:pubmed |
| pubmed-article:9713825 | pubmed:author | pubmed-author:D'AndreaA DAD | lld:pubmed |
| pubmed-article:9713825 | pubmed:author | pubmed-author:LeeJ SJS | lld:pubmed |
| pubmed-article:9713825 | pubmed:author | pubmed-author:JoenjeHH | lld:pubmed |
| pubmed-article:9713825 | pubmed:author | pubmed-author:MulliganRR | lld:pubmed |
| pubmed-article:9713825 | pubmed:author | pubmed-author:JakobsPP | lld:pubmed |
| pubmed-article:9713825 | pubmed:author | pubmed-author:NagCC | lld:pubmed |
| pubmed-article:9713825 | pubmed:author | pubmed-author:GrompeMM | lld:pubmed |
| pubmed-article:9713825 | pubmed:author | pubmed-author:SieffCC | lld:pubmed |
| pubmed-article:9713825 | pubmed:author | pubmed-author:GuinanEE | lld:pubmed |
| pubmed-article:9713825 | pubmed:author | pubmed-author:SulimanAA | lld:pubmed |
| pubmed-article:9713825 | pubmed:author | pubmed-author:PulsipherMM | lld:pubmed |
| pubmed-article:9713825 | pubmed:author | pubmed-author:KupferG MGM | lld:pubmed |
| pubmed-article:9713825 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9713825 | pubmed:volume | 4 | lld:pubmed |
| pubmed-article:9713825 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9713825 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9713825 | pubmed:pagination | 468-79 | lld:pubmed |
| pubmed-article:9713825 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:9713825 | pubmed:meshHeading | pubmed-meshheading:9713825-... | lld:pubmed |
| pubmed-article:9713825 | pubmed:year | 1998 | lld:pubmed |
| pubmed-article:9713825 | pubmed:articleTitle | Subtyping analysis of Fanconi anemia by immunoblotting and retroviral gene transfer. | lld:pubmed |
| pubmed-article:9713825 | pubmed:affiliation | Division of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA. | lld:pubmed |
