The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Aug. 19, 2014
Filed:
May. 06, 2010
Bruce D. Gelb, Dobbs Ferry, NY (US);
Marco Tartaglia, Rome, IT;
Len Pennacchio, Berkeley, CA (US);
Ravi Iyengar, Mohegan Lake, NY (US);
Avi Ma'ayan, New York, NY (US);
Bruce D. Gelb, Dobbs Ferry, NY (US);
Marco Tartaglia, Rome, IT;
Len Pennacchio, Berkeley, CA (US);
Ravi Iyengar, Mohegan Lake, NY (US);
Avi Ma'ayan, New York, NY (US);
Icahn School of Medicine at Mount Sinai, New York, NY (US);
The Regents of the University of California, Oakland, CA (US);
Abstract
The present invention is directed to methods of diagnosing Noonan-like syndrome with loose anagen hair comprising detecting a mutation in SHOC2 gene. One specific diagnostic mutation disclosed is an A-to-G transition at position 4 resulting in a mutation at position 2 of SHOC2 amino acid sequence from serine to glycine. The invention also provides related sequences and kits.