Compositions and methods for detecting noonan syndrome
Номер патента: EP2102362A2
Опубликовано: 23-09-2009
Автор(ы): Bruce D. Gelb, Len Pennacchio, Marco Tartaglia
Принадлежит: Mount Sinai School of Medicine, UNIVERSITY OF CALIFORNIA
Опубликовано: 23-09-2009
Автор(ы): Bruce D. Gelb, Len Pennacchio, Marco Tartaglia
Принадлежит: Mount Sinai School of Medicine, UNIVERSITY OF CALIFORNIA
Реферат: Diagnostic and therapeutic applications for Noonan Syndrome are described. The diagnostic and therapeutic applications are based on certain mutations in a RAS-specific guanine nucleotide exchange factor gene SOSl or its expression product. The diagnostic and therapeutic applications are also based on certain mutations in a serine/threonine protein kinase gene RAFl or its expression product thereof. Also described are nucleotide sequences, amino acid sequences, probes, and primers related to RAFl or SOSl, and variants thereof, as well as host cells expressing such variants.
Compositions and methods for detecting noonan syndrome
Номер патента: US20100009361A1. Автор: Bruce D. Gelb,Marco Tartaglia,Len Pennacchio. Владелец: UNIVERSITY OF CALIFORNIA. Дата публикации: 2010-01-14.