| pubmed-article:10429368 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:10429368 | lifeskim:mentions | umls-concept:C0015576 | lld:lifeskim |
| pubmed-article:10429368 | lifeskim:mentions | umls-concept:C1556094 | lld:lifeskim |
| pubmed-article:10429368 | lifeskim:mentions | umls-concept:C0265234 | lld:lifeskim |
| pubmed-article:10429368 | lifeskim:mentions | umls-concept:C0544885 | lld:lifeskim |
| pubmed-article:10429368 | lifeskim:mentions | umls-concept:C1414490 | lld:lifeskim |
| pubmed-article:10429368 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:10429368 | pubmed:dateCreated | 1999-9-16 | lld:pubmed |
| pubmed-article:10429368 | pubmed:abstractText | Advances in molecular genetics have recently revealed that mutations in the EYA1 gene are responsible for branchio-oto-renal (BOR) syndrome in European and other populations. This is the first report confirming that an EYA1 gene mutation is also disease-causing in an Asian population. We have described one Japanese BOR syndrome family showing a novel mutation in exon 7 of the EYA1 gene. There was extensive variation of clinical phenotypes within this family. When the physician is confronted with a BOR family showing a wide variation in clinical expression, molecular genetic testing helps to achieve accurate diagnosis. | lld:pubmed |
| pubmed-article:10429368 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10429368 | pubmed:language | eng | lld:pubmed |
| pubmed-article:10429368 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10429368 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:10429368 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10429368 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10429368 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10429368 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10429368 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10429368 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10429368 | pubmed:issn | 1434-5161 | lld:pubmed |
| pubmed-article:10429368 | pubmed:author | pubmed-author:AbeSS | lld:pubmed |
| pubmed-article:10429368 | pubmed:author | pubmed-author:KumarSS | lld:pubmed |
| pubmed-article:10429368 | pubmed:author | pubmed-author:KimberlingW... | lld:pubmed |
| pubmed-article:10429368 | pubmed:author | pubmed-author:UsamiSS | lld:pubmed |
| pubmed-article:10429368 | pubmed:author | pubmed-author:ShinkawaHH | lld:pubmed |
| pubmed-article:10429368 | pubmed:author | pubmed-author:DeffenbacherK... | lld:pubmed |
| pubmed-article:10429368 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:10429368 | pubmed:volume | 44 | lld:pubmed |
| pubmed-article:10429368 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10429368 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10429368 | pubmed:pagination | 261-5 | lld:pubmed |
| pubmed-article:10429368 | pubmed:dateRevised | 2007-11-15 | lld:pubmed |
| pubmed-article:10429368 | pubmed:meshHeading | pubmed-meshheading:10429368... | lld:pubmed |
| pubmed-article:10429368 | pubmed:meshHeading | pubmed-meshheading:10429368... | lld:pubmed |
| pubmed-article:10429368 | pubmed:meshHeading | pubmed-meshheading:10429368... | lld:pubmed |
| pubmed-article:10429368 | pubmed:meshHeading | pubmed-meshheading:10429368... | lld:pubmed |
| pubmed-article:10429368 | pubmed:meshHeading | pubmed-meshheading:10429368... | lld:pubmed |
| pubmed-article:10429368 | pubmed:meshHeading | pubmed-meshheading:10429368... | lld:pubmed |
| pubmed-article:10429368 | pubmed:meshHeading | pubmed-meshheading:10429368... | lld:pubmed |
| pubmed-article:10429368 | pubmed:meshHeading | pubmed-meshheading:10429368... | lld:pubmed |
| pubmed-article:10429368 | pubmed:meshHeading | pubmed-meshheading:10429368... | lld:pubmed |
| pubmed-article:10429368 | pubmed:meshHeading | pubmed-meshheading:10429368... | lld:pubmed |
| pubmed-article:10429368 | pubmed:meshHeading | pubmed-meshheading:10429368... | lld:pubmed |
| pubmed-article:10429368 | pubmed:meshHeading | pubmed-meshheading:10429368... | lld:pubmed |
| pubmed-article:10429368 | pubmed:meshHeading | pubmed-meshheading:10429368... | lld:pubmed |
| pubmed-article:10429368 | pubmed:meshHeading | pubmed-meshheading:10429368... | lld:pubmed |
| pubmed-article:10429368 | pubmed:meshHeading | pubmed-meshheading:10429368... | lld:pubmed |
| pubmed-article:10429368 | pubmed:meshHeading | pubmed-meshheading:10429368... | lld:pubmed |
| pubmed-article:10429368 | pubmed:year | 1999 | lld:pubmed |
| pubmed-article:10429368 | pubmed:articleTitle | EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family. | lld:pubmed |
| pubmed-article:10429368 | pubmed:affiliation | Department of Otorhinolaryngology, Hirosaki University School of Medicine, Japan. usami@cc.hirosaki-u.ac.jp | lld:pubmed |
| pubmed-article:10429368 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:10429368 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:10429368 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:10429368 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
