Compound Heterozygosity for Non-Sense and Mis-Sense Mutations in Desmoplakin Underlies Skin Fragility/Woolly Hair Syndrome - Concepedia

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

DOI Full Paper Access

147

Citations

33

References

2002

Year

Neil V. Whittock, Hong Wan, Robin A.J. Eady, Susan M. Morley, Maria C. Garzón, Leonard Kristal, Patrice Hyde, W.H. Irwin McLean, Leena Pulkkinen, Juoni Uitto,

Journal of Investigative Dermatology

Mis-sense MutationsDevelopmental BiologyMendelian DisorderGenetic DisorderGeneticsMolecular GeneticsDermatologyMedicineCompound Heterozygosity

References

	Year	Citations

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