scholarly journals A -96C?T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa

2000 ◽  
Vol 16 (3) ◽  
pp. 275-275 ◽  
Author(s):  
Rita Gardella ◽  
Sergio Barlati ◽  
Nicoletta Zoppi ◽  
Gianluca Tadini ◽  
Marina Colombi
Keyword(s):  
Epidermolysis Bullosa ◽  
Collagen Type ◽  
Dystrophic Epidermolysis Bullosa ◽  
Recessive Dystrophic Epidermolysis Bullosa ◽  
Collagen Type Vii

scholarly journals Inversa Dystrophic Epidermolysis Bullosa Is Caused by Missense Mutations at Specific Positions of the Collagenic Domain of Collagen Type VII

2010 ◽  
Vol 130 (10) ◽  
pp. 2508-2511 ◽  
Author(s):  
Christine Chiaverini ◽  
Alexandra V. Charlesworth ◽  
Monia Youssef ◽  
Jean-François Cuny ◽  
Smail H. Rabia ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Collagen Type ◽  
Missense Mutations ◽  
Dystrophic Epidermolysis Bullosa ◽  
Collagen Type Vii
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