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Title: Compositions and methods for detecting Noonan syndrome

Abstract

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 SOS1 or its expression product. The diagnostic and therapeutic applications are also based on certain mutations in a serine/threonine protein kinase gene RAF1 or its expression product thereof. Also described are nucleotide sequences, amino acid sequences, probes, and primers related to RAF1 or SOS1, and variants thereof, as well as host cells expressing such variants.

Inventors:
 [1];  [2];  [3]
  1. New York, NY
  2. Rome, IT
  3. Walnut Creek, CA
Publication Date:
Research Org.:
Lawrence Livermore National Lab. (LLNL), Livermore, CA (United States)
Sponsoring Org.:
USDOE
OSTI Identifier:
1068839
Patent Number(s):
8,221,979
Application Number:
12/443,752
Assignee:
Mount Sinai School of Medicine (New York, NY); The Regents of the University of California (Oakland, CA) LLNL
DOE Contract Number:  
AC52-07NA27344
Resource Type:
Patent
Country of Publication:
United States
Language:
English
Subject:
60 APPLIED LIFE SCIENCES

Citation Formats

Gelb, Bruce D, Tartaglia, Marco, and Pennacchio, Len. Compositions and methods for detecting Noonan syndrome. United States: N. p., 2012. Web.
Gelb, Bruce D, Tartaglia, Marco, & Pennacchio, Len. Compositions and methods for detecting Noonan syndrome. United States.
Gelb, Bruce D, Tartaglia, Marco, and Pennacchio, Len. Tue . "Compositions and methods for detecting Noonan syndrome". United States. https://www.osti.gov/servlets/purl/1068839.
@article{osti_1068839,
title = {Compositions and methods for detecting Noonan syndrome},
author = {Gelb, Bruce D and Tartaglia, Marco and Pennacchio, Len},
abstractNote = {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 SOS1 or its expression product. The diagnostic and therapeutic applications are also based on certain mutations in a serine/threonine protein kinase gene RAF1 or its expression product thereof. Also described are nucleotide sequences, amino acid sequences, probes, and primers related to RAF1 or SOS1, and variants thereof, as well as host cells expressing such variants.},
doi = {},
journal = {},
number = ,
volume = ,
place = {United States},
year = {2012},
month = {7}
}

Patent:

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