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Clustering of Missense Mutations in the C-Terminal Region of Factor H in Atypical Hemolytic Uremic Syndrome

✍ Scribed by David Pérez-Caballero; Carolina González-Rubio; M.Esther Gallardo; Mariá Vera; Margarita López-Trascasa; Santiago Rodríguez de Córdoba; Pilar Sánchez-Corral

Book ID
117853535
Publisher
American Society of Human Genetics
Year
2001
Tongue
English
Weight
217 KB
Volume
68
Category
Article
ISSN
0002-9297

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De novo gene conversion in the RCA gene
De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome
✍ Stefan Heinen; Pilar Sanchez-Corral; Michael S Jackson; Lisa Strain; Judith A. G 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 315 KB

Many of the complement regulatory genes within the RCA cluster (1q32) have arisen through genomic duplication and the resulting high degree of sequence identity is likely to predispose to gene conversion events. The highest degree of identity is between the genes for factor H (CFH) and five factor H