Autosomal-dominant cutis laxa resulting from an intronic mutation in ELN.

Vodo, Dan; Sarig, Ofer; Peled, Alon; Frydman, Moshe; Greenberger, Shoshi; Sprecher, Eli

Vodo, Dan; Sarig, Ofer; Peled, Alon; Frydman, Moshe; Greenberger, Shoshi; Sprecher, Eli.

Afiliação

Vodo D; Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Sarig O; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Peled A; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Frydman M; Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Greenberger S; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Sprecher E; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Exp Dermatol ; 24(11): 885-7, 2015 Nov.

Article em En | MEDLINE | ID: mdl-26121527

Assuntos

Cútis Laxa/genética; Elastina/genética; Pré-Escolar; Análise Mutacional de DNA; Genes Dominantes; Humanos; Íntrons; Masculino

Palavras-chave

autosomal dominant inheritance; cryptic splice site; cutis laxa; elastin

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Elastina / Cútis Laxa Limite: Child, preschool / Humans / Male Idioma: En Revista: Exp Dermatol Ano de publicação: 2015 Tipo de documento: Article

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