scholarly journals A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex

2010 ◽  
Vol 130 (6) ◽  
pp. 1551-1557 ◽  
Author(s):  
Richard W. Groves ◽  
Lu Liu ◽  
Patricia J. Dopping-Hepenstal ◽  
Hugh S. Markus ◽  
Patricia A. Lovell ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Nonsense Mutation ◽  
Autosomal Recessive ◽  
Coiled Coil ◽  
Epidermolysis Bullosa Simplex ◽  
Coiled Coil Domain ◽  
Gene Coding ◽  
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

Autosomal recessive epidermolysis bullosa simplex: report of three cases from India

2017 ◽  
Vol 42 (7) ◽  
pp. 800-803 ◽  
Author(s):  
V. K. Yenamandra ◽  
K. V. Shamsudheen ◽  
R. C. Madhumita ◽  
J. Rijith ◽  
V. Ankit ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Autosomal Recessive ◽  
Epidermolysis Bullosa Simplex
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