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Jouni Uitto
Jouni Uitto
Necker-Enfants Malades Hospital
Nonsense mutation
Biology
Gene
Recessive dystrophic epidermolysis bullosa
Missense mutation
3
Papers
148
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Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.
1997
American Journal of Human Genetics
Alain Hovnanian
Ariane Rochat
C. Bodemer
Elisabeth Petit
Caroline A. Rivers
Catherine Prost
Sylvie Fraitag
Angela M. Christiano
Jouni Uitto
Mark Lathrop
Yann Barrandon
Yves de Prost
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Citations (145)
Recurrent Nonsense Mutations within theTypeVIICollagen GeneinPatients withSevere Recessive Dystrophic Epidermolysis Bullosa
1994
Alain Hovnanian
L. Hilal
Claudine Blanchet-Bardon
Jouni Uitto
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Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa
1994
Journal of Investigative Dermatology
Alain Hovnanian
L Hilall
Claudine Blanchet-Bardon
Y. De Prost
Angela M. Christiano
Jouni Uitto
Michel Goossens
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Citations (2)
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