Article

Identification of Five Novel Variants of ADAR1 in Dyschromatosis Symmetrica Hereditaria by Next-generation Sequencing

2022-04-27

Abstract excerpt

Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant inherited pigmentary dermatosis characterized by a mixture of hyperpigmented and hypopigmented freckles on the dorsal aspect of the distal extremities. To date, pathogenic mutations causing DSH have been identified in the adenosine deaminase acting on RNA1 gene ( ADAR1 ), which is mapped to chromosome 1q21. The present study aimed to investig...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: defea45b-7a7b-508d-89c9-7c865d9ceef0
DOI: 10.21203/rs.3.rs-1499714/v2

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Identification of Five Novel Variants of ADAR1 in Dyschromatosis Symmetrica Hereditaria by Next-generation SequencingDOI 10.21203/rs.3.rs-1499714/v2Read

Four novel mutations of ADAR1 in Chinese patients with dyschromatosis symmetrica hereditaria.Semantic proximity Read

Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria.Semantic proximity Read

A novel insertion mutation in the ADAR1 gene of a Chinese family with dyschromatosis symmetrica hereditaria.Semantic proximity Read

A novel missense mutation of ADAR1 gene in a Chinese family leading to dyschromatosis symmetrica hereditaria and literature review.Semantic proximity Read

Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene.Semantic proximity Read

Six novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria.Semantic proximity Read

Mutational spectrum of the ADAR1 gene in dyschromatosis symmetrica hereditaria.Semantic proximity Read

Identification of a novel ADAR mutation in a Chinese family with dyschromatosis symmetrica hereditaria (DSH).Semantic proximity Read

Eight Novel Mutations of the ADAR1 Gene in Chinese Patients with Dyschromatosis Symmetrica Hereditaria.Semantic proximity Read

Dyschromatosis symmetrica hereditaria.Semantic proximity Read

Mutations in the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria.Semantic proximity Read

Identification of two novel splice mutations of the ADAR1 gene in two Chinese families with dyschromatosis symmetrica hereditaria.Semantic proximity Read