X-chromosomal inactivation patterns in women with Fabry disease.

Wagenhäuser, Laura; Rickert, Vanessa; Sommer, Claudia; Wanner, Christoph; Nordbeck, Peter; Rost, Simone; Üçeyler, Nurcan

X-chromosomal inactivation patterns in women with Fabry disease.

Wagenhäuser, Laura; Rickert, Vanessa; Sommer, Claudia; Wanner, Christoph; Nordbeck, Peter; Rost, Simone; Üçeyler, Nurcan.

Afiliação

Wagenhäuser L; Department of Neurology, University of Würzburg, Würzburg, Germany.
Rickert V; Department of Neurology, University of Würzburg, Würzburg, Germany.
Sommer C; Department of Neurology, University of Würzburg, Würzburg, Germany.
Wanner C; Fabry Centre for Interdisciplinary Therapy Würzburg (FAZIT), University of Würzburg, Würzburg, Germany.
Nordbeck P; Fabry Centre for Interdisciplinary Therapy Würzburg (FAZIT), University of Würzburg, Würzburg, Germany.
Rost S; Department of Internal Medicine, Division of Nephrology, University of Würzburg, Würzburg, Germany.
Üçeyler N; Fabry Centre for Interdisciplinary Therapy Würzburg (FAZIT), University of Würzburg, Würzburg, Germany.

Mol Genet Genomic Med ; 10(9): e2029, 2022 09.

Article em En | MEDLINE | ID: mdl-35971858

Assuntos

Doença de Fabry; Doença de Fabry/diagnóstico; Doença de Fabry/genética; Feminino; Humanos; Masculino; Fenótipo; Receptores Androgênicos/genética; Inativação do Cromossomo X; alfa-Galactosidase/genética; alfa-Galactosidase/metabolismo

Palavras-chave

Fabry disease; Fabry genotype; Fabry phenotype; X-chromosomal inactivation; female Fabry patients

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Fabry Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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