A Novel Microduplication Spanning Exons 8-16 of <i>ATP2C1</i> That Was Undetectable by Standard Sanger Sequencing in a Japanese Patient With Hailey-Hailey Disease.

Teye, Kwesi; Koga, Hiroshi; Hamada, Takahiro; Matsuda, Mitsuhiro; Ichiki, Mikio; Numata, Sanae; Ishii, Norito; Nakama, Takekuni

A Novel Microduplication Spanning Exons 8-16 of ATP2C1 That Was Undetectable by Standard Sanger Sequencing in a Japanese Patient With Hailey-Hailey Disease.

Teye, Kwesi; Koga, Hiroshi; Hamada, Takahiro; Matsuda, Mitsuhiro; Ichiki, Mikio; Numata, Sanae; Ishii, Norito; Nakama, Takekuni.

Afiliação

Teye K; Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan.
Koga H; Department of Dermatology, Kurume University School of Medicine, Kurume, Japan.
Hamada T; Department of Dermatology, Kurume University School of Medicine, Kurume, Japan.
Matsuda M; Department of Dermatology, Kurume University School of Medicine, Kurume, Japan.
Ichiki M; Department of Dermatology, Kurume University School of Medicine, Kurume, Japan.
Numata S; Department of Dermatology, Kurume University School of Medicine, Kurume, Japan.
Ishii N; Department of Dermatology, Kurume University School of Medicine, Kurume, Japan.
Nakama T; Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan.

Front Med (Lausanne) ; 7: 492, 2020.

Article em En | MEDLINE | ID: mdl-33015087

Palavras-chave

ATP2C1; HaileyHailey disease; Japan; MLPA; SPCA1; genetic disease; microduplication

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Front Med (Lausanne) Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Japão

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