scholarly journals Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts

2014 ◽  
Vol 3 ◽  
pp. e171 ◽  
Author(s):  
Satoru Noguchi ◽  
Megumu Ogawa ◽  
Genri Kawahara ◽  
May Christine Malicdan ◽  
Ichizo Nishino
Keyword(s):  
Muscular Dystrophy ◽  
Gene Silencing ◽  
Congenital Muscular Dystrophy ◽  
Cellular Function ◽  
Specific Gene ◽  
Ullrich Congenital Muscular Dystrophy ◽  
Allele Specific

Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study

2017 ◽  
Vol 32 (14) ◽  
pp. 1099-1103
Author(s):  
Biswaroop Chakrabarty ◽  
M. C. Sharma ◽  
Sheffali Gulati ◽  
Chitra Sarkar
Keyword(s):  
Muscular Dystrophy ◽  
Observational Study ◽  
Skin Biopsy ◽  
Congenital Muscular Dystrophy ◽  
Ullrich Congenital Muscular Dystrophy

C.P.2.06 Spectrum of COL6A1 mutations in patients with Ullrich congenital muscular dystrophy

2007 ◽  
Vol 17 (9-10) ◽  
pp. 845
Author(s):  
P. Richard ◽  
C. Ledeuil ◽  
C. Gartioux ◽  
L. Torrieri ◽  
L. Briñas ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Congenital Muscular Dystrophy ◽  
Ullrich Congenital Muscular Dystrophy

Allele-Specific Gene Silencing in Osteogenesis Imperfecta

2011 ◽  
pp. 85-90 ◽  
Author(s):  
Östen Ljunggren ◽  
Katarina Lindahl ◽  
Carl-Johan Rubin ◽  
Andreas Kindmark
Keyword(s):  
Osteogenesis Imperfecta ◽  
Gene Silencing ◽  
Specific Gene ◽  
Allele Specific
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