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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. |
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| Authors: | A Hovnanian A Rochat C Bodemer E Petit C A Rivers C Prost S Fraitag A M Christiano J Uitto M Lathrop Y Barrandon and Y de Prost |
| Institution: | The Wellcome Trust Centre for Human Genetics, University of Oxford, United Kingdom. alain.hovnanian@well.ox.ac.uk |
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