Compound Heterozygosity for Non-Sense and Mis-Sense Mutations in Desmoplakin Underlies Skin Fragility/Woolly Hair Syndrome
Titel:
Compound Heterozygosity for Non-Sense and Mis-Sense Mutations in Desmoplakin Underlies Skin Fragility/Woolly Hair Syndrome
Auteur:
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.