Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome

N V Whittock, H Wan, S M Morley, M C Garzon, L Kristal, P Hyde, W H I McLean, L Pulkkinen, J Uitto, A M Christiano, R A J Eady, J A McGrath

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology