Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479

Journal article

Preeti Chaudhary, Mehmet Hepgur, Sarmen Sarkissian, Richard J H Smith and Ilene C Weitz

Blood transfusion = Trasfusione del sangue, Vol.12(1), pp.111-113

01/2014

DOI: 10.2450/2013.0107-13

PMCID: PMC3926711

PMID: 24333077

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Case report

Hemolytic-Uremic Syndrome - genetics

Point Mutation

Blood Proteins - genetics

Humans

Complement C3b Inactivator Proteins - genetics

Adult

Female

Heterozygote

Complement Factor H - genetics

Atypical Hemolytic Uremic Syndrome

Title: Subtitle: Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479
Creators: Preeti Chaudhary - Jane Anne Nohl Division of Hematology, Los Angeles, CA, United States of America
Mehmet Hepgur - Jane Anne Nohl Division of Hematology, Los Angeles, CA, United States of America
Sarmen Sarkissian - Division of Internal Medicine Keck-USC School of Medicine, Los Angeles, CA, United States of America
Richard J H Smith - Department of Internal Medicine, University of Iowa School of Medicine, Iowa City, IA, United States of America
Ilene C Weitz - Jane Anne Nohl Division of Hematology, Los Angeles, CA, United States of America
Resource Type: Journal article
Publication Details: Blood transfusion = Trasfusione del sangue, Vol.12(1), pp.111-113
DOI: 10.2450/2013.0107-13
PMID: 24333077
PMCID: PMC3926711
NLM abbreviation: Blood Transfus
ISSN: 1723-2007
Publisher: Italy
Language: English
Date published: 01/2014
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984007287102771

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