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Article

Thrombotic microangiopathy without renal involvement: two novel mutations in complement-regulator genes.

Journal of thrombosis and haemostasis : JTH - 1 Feb 2016

Peyvandi F, Rossio R, Ferrari B, Lotta L A, Pontiggia S, Ghiringhelli Borsa N, Pizzuti M, Donadelli R, Piras R, Cugno M, Noris M

Abstract excerpt

UNLABELLED: ESSENTIALS: The differential diagnosis among thrombotic microangiopathies (TMAs) is challenging. We studied a case of TMA with neurologic symptoms, no renal impairment and normal ADAMTS-13 levels. Two novel mutations in complement factor I and thrombomodulin genes were identified. Complement-regulator genes can be involved in TMAs with normal ADAMTS-13 regardless of renal damage. BACKGROUND:...

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Share to ADAMTS13 Protein
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Carboxypeptidase B2

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Source

Identifiers

PMID: 26613809
DOI: 10.1111/jth.13210

Genes

CFI
THBD
VWF

Variants

Provenance

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