Adult-onset congenital thrombotic thrombocytopenic purpura caused by a novel compound heterozygous mutation of the ADAMTS13 gene.

Krabbe, Johannes G; Kemna, Evelien W M; Strunk, Annuska L M; Jobse, Pieter A; Kramer, P A; Dikkeschei, L D; van den Heuvel, L P W J; Fijnheer, Rob; Verdonck, Leo F

Krabbe, Johannes G; Kemna, Evelien W M; Strunk, Annuska L M; Jobse, Pieter A; Kramer, P A; Dikkeschei, L D; van den Heuvel, L P W J; Fijnheer, Rob; Verdonck, Leo F.

Afiliação

Krabbe JG; Department of Clinical Chemistry and Laboratory Medicine, Isala Clinics, Zwolle, The Netherlands. h.krabbe@medlon.nl.
Kemna EW; Department of Clinical Chemistry and Laboratory Medicine, Medisch Spectrum Twente Hospital Group, Ariensplein 1, 7500, Enschede, KA, The Netherlands. h.krabbe@medlon.nl.
Strunk AL; Department of Clinical Chemistry and Laboratory Medicine, Medisch Spectrum Twente Hospital Group, Ariensplein 1, 7500, Enschede, KA, The Netherlands. evelien.kemna@medlon.nl.
Jobse PA; Department of Clinical Chemistry and Laboratory Medicine, Isala Clinics, Zwolle, The Netherlands.
Kramer PA; Department of Haematology, Isala Clinics, Zwolle, The Netherlands.
Dikkeschei LD; Department of Clinical Chemistry and Laboratory Medicine, Isala Clinics, Zwolle, The Netherlands.
van den Heuvel LP; Department of Clinical Chemistry and Laboratory Medicine, Isala Clinics, Zwolle, The Netherlands.
Fijnheer R; Department of Pediatric Nephrology and Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, The Netherlands.
Verdonck LF; Department of Haematology, Meander Medisch Centrum, Amersfoort, The Netherlands.

Int J Hematol ; 102(4): 477-81, 2015 Oct.

Article em En | MEDLINE | ID: mdl-26267233

Assuntos

Proteínas ADAM/genética; Éxons; Heterozigoto; Mutação de Sentido Incorreto; Púrpura Trombocitopênica Trombótica/genética; Proteína ADAMTS13; Idade de Início; Substituição de Aminoácidos; Humanos; Masculino; Pessoa de Meia-Idade

Palavras-chave

ADAMTS13; Compound heterozygosity; Congenital; Thrombotic thrombocytopenic purpura

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Púrpura Trombocitopênica Trombótica / Éxons / Mutação de Sentido Incorreto / Proteínas ADAM / Heterozigoto Tipo de estudo: Prognostic_studies Limite: Humans / Male / Middle aged Idioma: En Revista: Int J Hematol Assunto da revista: HEMATOLOGIA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Holanda

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