Author,Title,Journal,ISSN,Publisher,Date,Volume,Number,Page,URL,URL(DOI) WHITTOCK NV,Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome,J Invest Dermatol,,,2002,118,,232-238,https://cir.nii.ac.jp/crid/1574231875292525184,