Mosaicism for ATP2A2 Mutation and Mutant Allelic Fractions Detected by Droplet Digital PCR in Simple Segmental Darier Disease
- PMID: 37448212
- PMCID: PMC10391532
- DOI: 10.2340/actadv.v103.12337
Mosaicism for ATP2A2 Mutation and Mutant Allelic Fractions Detected by Droplet Digital PCR in Simple Segmental Darier Disease
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References
-
- Sakuntabhai A, Ruiz-Perez V, Carter S, Jacobsen N, Burge S, Monk S, et al. Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nat Genet 1999; 21: 271–277. - PubMed
-
- Happle R, Torrelo A. Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations? J Eur Acad Dermatol Venereol 2020; 34: 2511–2517. - PubMed
-
- Wada T, Shirakata Y, Takahashi H, Murakami S, Iizuka H, Suzuki H, et al. A Japanese case of segmental Darier’s disease caused by mosaicism for the ATP2A2 mutation. Br J Dermatol 2003; 149: 185–188. - PubMed
-
- Harboe TL, Willems P, Jespersgaard C, Mølgaard Poulsen ML, Sørensen FB, Bisgaard ML. Mosaicism in segmental Darier disease: an in-depth molecular analysis quantifying proportions of mutated alleles in various tissues. Dermatology 2011; 222: 292–296. - PubMed
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