Complement Factor H Gene Mutation Associated with Autosomal Recessive Atypical Hemolytic Uremic Syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference6 articles.
1. Human factor H deficiency: mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism;Ault;J Biol Chem,1997
2. Disulfide bonds are localized within the short consensus repeat units of complement regulatory proteins: C4b-binding protein;Janatova;Biochemistry,1989
3. Disruption of disulfide bonds is responsible for impaired secretion in human complement factor H deficiency;Schmidt;J Biol Chem,1999
4. Genetic studies into inherited and sporadic haemolytic uraemic syndrome;Warwicker;Kidney Int,1998
5. Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome;Ying;Am J Hum Genet,1999
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