Deleterious Impact of a Novel <i>CFH</i> Splice Site Variant in Atypical Hemolytic Uremic Syndrome.

Schönauer, Ria; Seidel, Anna; Grohmann, Maik; Lindner, Tom H; Bergmann, Carsten; Halbritter, Jan

Deleterious Impact of a Novel CFH Splice Site Variant in Atypical Hemolytic Uremic Syndrome.

Schönauer, Ria; Seidel, Anna; Grohmann, Maik; Lindner, Tom H; Bergmann, Carsten; Halbritter, Jan.

Afiliación

Schönauer R; Division of Nephrology, University Hospital Leipzig, Leipzig, Germany.
Seidel A; Division of Nephrology, University Hospital Leipzig, Leipzig, Germany.
Grohmann M; Center for Human Genetics, Bioscientia, Ingelheim, Germany.
Lindner TH; Division of Nephrology, University Hospital Leipzig, Leipzig, Germany.
Bergmann C; Center for Human Genetics, Bioscientia, Ingelheim, Germany.
Halbritter J; Division of Nephrology, University Hospital Leipzig, Leipzig, Germany.

Front Genet ; 10: 465, 2019.

Article en En | MEDLINE | ID: mdl-31156713

Palabras clave

CFH; aHUS; atypical hemolytic uremic syndrome; complement factor H; eculizumab; short consensus repeat 18; splice site variant

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Front Genet Año: 2019 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Suiza

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