Blood Res.  2016 Sep;51(3):210-213. 10.5045/br.2016.51.3.210.

A case of atypical hemolytic uremic syndrome associated with the c.1273C>T mutation in the complement C3 gene

• Cho HJ
• Kim JO
• Huh JY
• Park Y
• Kim MG
• Oh D

• KMID: 2353506
• DOI: http://doi.org/10.5045/br.2016.51.3.210

Abstract

No abstract available.

MeSH Terms

Atypical Hemolytic Uremic Syndrome*
Complement C3*
Complement System Proteins*
Complement C3
Complement System Proteins

Figure

• 

  Fig. 1 Restriction fragment length polymorphism analysis of our patient with heterozygote c.1273C>T mutation in C3 gene showing 250 bp product (solid arrow).Abbreviations: P, patient; WT, wild type.

• 

  Fig. 2 Localization of the R425C C3 mutation. (A) Position within the C3 gene and the protein primary structure. (B) Representative genome sequencing histogram for our patient (red square).

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