scholarly journals A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy.

1996 ◽  
Vol 98 (10) ◽  
pp. 2196-2200 ◽  
Author(s):  
S Chavanas ◽  
L Pulkkinen ◽  
Y Gache ◽  
F J Smith ◽  
W H McLean ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Epidermolysis Bullosa ◽  
Nonsense Mutation ◽  
Epidermolysis Bullosa Simplex ◽  
Homozygous Nonsense Mutation

Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex

1998 ◽  
Vol 11 (4) ◽  
pp. 279-285 ◽  
Author(s):  
Laura D. Corden ◽  
Jemima E. Mellerio ◽  
Matthew J. Gratian ◽  
Robin A. J. Eady ◽  
John I. Harper ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Nonsense Mutation ◽  
Epidermolysis Bullosa Simplex ◽  
Homozygous Nonsense Mutation

scholarly journals Homozygous nonsense mutation inSGCAis a common cause of limb-girdle muscular dystrophy in Assiut, Egypt

2016 ◽  
Vol 54 (4) ◽  
pp. 690-695 ◽  
Author(s):  
Hemakumar M. Reddy ◽  
Sherifa A. Hamed ◽  
Monkol Lek ◽  
Satomi Mitsuhashi ◽  
Elicia Estrella ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Nonsense Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Common Cause ◽  
Homozygous Nonsense Mutation

Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy

2005 ◽  
Vol 37 (2) ◽  
pp. 87-93 ◽  
Author(s):  
Yoshie Takahashi ◽  
Fatima Rouan ◽  
Jouni Uitto ◽  
Akemi Ishida-Yamamoto ◽  
Hajime Iizuka ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex ◽  
History Of

Epidermolysis Bullosa Simplex Associated With Muscular Dystrophy: A New Case

1994 ◽  
Vol 11 (4) ◽  
pp. 342-345 ◽  
Author(s):  
Annallsa Patrizi ◽  
Vito Lernia ◽  
Iria Neri ◽  
Lucilla Badiali Giorgi ◽  
Massimo Mast
Keyword(s):  
Muscular Dystrophy ◽  
Epidermolysis Bullosa ◽  
Epidermolysis Bullosa Simplex
Sign in / Sign up

Export Citation Format

Share Document