Invention Grant
US08808992B2 SHOC2 mutations causing noonan-like syndrome with loose anagen hair
有权
SHOC2突变导致了具有松散原生动物头发的无复旦综合征
- Patent Title: SHOC2 mutations causing noonan-like syndrome with loose anagen hair
- Patent Title (中): SHOC2突变导致了具有松散原生动物头发的无复旦综合征
-
Application No.: US12775396Application Date: 2010-05-06
-
Publication No.: US08808992B2Publication Date: 2014-08-19
- Inventor: Bruce D. Gelb , Marco Tartaglia , Len Pennacchio , Ravi Iyengar , Avi Ma'ayan
- Applicant: Bruce D. Gelb , Marco Tartaglia , Len Pennacchio , Ravi Iyengar , Avi Ma'ayan
- Applicant Address: US NY New York US CA Oakland
- Assignee: Icahn School of Medicine at Mount Sinai,The Regents of the University of California
- Current Assignee: Icahn School of Medicine at Mount Sinai,The Regents of the University of California
- Current Assignee Address: US NY New York US CA Oakland
- Agency: Fish & Richardson P.C.
- Main IPC: C12Q1/68
- IPC: C12Q1/68 ; C07K5/00
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.
Public/Granted literature
- US20110059851A1 SHOC2 Mutations Causing Noonan-Like Syndrome With Loose Anagen Hair Public/Granted day:2011-03-10
Information query
