The invention encompasses methods and reagents for the diagnosis of a disease caused by or associated with a gene having a somatic mutation giving rise to a frameshift mutation. The methods include the steps of providing a body fluid or tissue sample from a patient; and analyzing the sample for the presence of a gene having a frameshift mutation or a protein encoded thereby, wherein the presence of the mutated gene or encoded protein is indicative of the disease.
申请公布号
WO9712992(A3)
申请公布日期
1997.10.23
申请号
WO1996IB01106
申请日期
1996.10.02
申请人
ROYAL NETHERLANDS ACADEMY OF ARTS AND SCIENCES;STATE UNIVERSITY OF UTRECHT;ERASMUS UNIVERSITY ROTTERDAM
发明人
VAN LEEUWEN, FREDERIK, WILLEM;BURBACH, JOHANNES, PETER, HENRI;GROSVELD, FRANKLIN, GERARDUS