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Title
Compound Heterozygosity for Non-Sense and Mis-Sense Mutations in Desmoplakin Underlies Skin Fragility/Woolly Hair Syndrome
Authors
Whittock, Neil V.; Wan, Hong; Eady, Robin A.J.; Morley, Susan M.; Garzon, Maria C.; Kristal, Leonard; Hyde, Patrice; Irwin McLean, W.H.; Pulkkinen, Leena; Uitto, Juoni; Christiano, Angela M.; McGrath, John A.
Publication
Journal of Investigative Dermatology, 2002, Vol 118, Issue 2, p232