Compound Heterozygosity for Non-Sense and Mis-Sense Mutations in Desmoplakin Underlies Skin Fragility/Woolly Hair Syndrome.
| Autor: | Whittock, Neil V1, Wan, Hong1, Morley, Susan M2, Garzon, Maria C3, Kristal, Leonard4, Hyde, Patrice5, McLean, W. H. Irwin6, Pulkkinen, Leena5, Uitto, Juoni5, Christiano, Angela M7, Eady, Robin A. J1, McGrath, John A2 |
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| Zdroj: | Journal of Investigative Dermatology. Feb2002, Vol. 118 Issue 2, p232-238. 7p. |
| Databáze: | Academic Search Ultimate |
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