A novel CD46 mutation in a patient with microangiopathy clinically resembling thrombotic thrombocytopenic purpura and normal ADAMTS13 activity

A novel CD46 mutation in a patient with microangiopathy clinically resembling thrombotic thrombocytopenic purpura and normal ADAMTS13 activity

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Bibliographic Details
Published in:Haematologica (Roma) Vol. 100; no. 3; pp. e87 - e89
Main Authors: Rossio, Raffaella, Lotta, Luca Andrea, Pontiggia, Silvia, Borsa, Nicolò Ghiringhelli, Garagiola, Isabella, Ardissino, Gianluigi, Mikovic, Danijela, Cugno, Massimo, Peyvandi, Flora
Format: Journal Article
Language:English
Published: Italy Ferrata Storti Foundation 01-03-2015
Subjects:
ADAM Proteins - genetics
ADAM Proteins - immunology
ADAMTS13 Protein
Adult
Atypical Hemolytic Uremic Syndrome - diagnosis
Atypical Hemolytic Uremic Syndrome - genetics
Atypical Hemolytic Uremic Syndrome - immunology
Base Sequence
Child
Complement Pathway, Alternative - genetics
Complement Pathway, Classical - genetics
Diagnosis, Differential
Female
Gene Expression
Heterozygote
Humans
Male
Membrane Cofactor Protein - genetics
Membrane Cofactor Protein - immunology
Molecular Sequence Data
Mutation
Online Only
Pedigree
Purpura, Thrombotic Thrombocytopenic - diagnosis
Purpura, Thrombotic Thrombocytopenic - genetics
Purpura, Thrombotic Thrombocytopenic - immunology
von Willebrand Factor - genetics
von Willebrand Factor - immunology
complement abnormalities
TTP
Online Access:Get full text
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Description
Bibliography:RR and LAL contributed equally to this manuscript
ISSN:0390-6078
1592-8721
DOI:10.3324/haematol.2014.111062