| 发明名称 |
BBS10 RELATED DIAGNOSTIC METHODS AND REAGENTS FOR BARDET-BIEDL SYNDROME |
| 摘要 |
<p>The present invention relates to the identification of a gene, designated BBS1O, that is involved in the genetic disease Bardet Biedl Syndrome (BBS), which is characterized by such diverse symptoms as obesity, diabetes, hypertension, mental retardation, renal cancer and other abnormalities, retinopathy and hypogonadism. Methods of use for the gene, for example in diagnosis and therapy of BBS, also are described.</p> |
| 申请公布号 |
EP1989328(A2) |
申请公布日期 |
2008.11.12 |
| 申请号 |
EP20070757393 |
申请日期 |
2007.02.23 |
| 申请人 |
THE JOHNS HOPKINS UNIVERSITY;UNIVERSITE LOUIS PASTEUR;UCL INSTITUTE OF CHILD HEALTH;COLLEGE DE FRANCE;BAYLOR COLLEGE OF MEDICINE |
发明人 |
KATSANIS, NICHOLAS;DOLLFUS, HELENE;STOETZEL, CORINNE;DAVIS, ERICA, E.;BEALS, PHILIP;MANDEL, JEAN-LOUIS;LEWIS, RICHARD, ALAN |
| 分类号 |
C12N15/12;A61K38/16;C07K14/00;C07K16/00;G01N33/53;G01N33/567 |
主分类号 |
C12N15/12 |
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