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Variable renal phenotype in a family with anINF2mutation

✍ Scribed by Hyun Kyung Lee; Kyoung Hee Han; Yun Hye Jung; Hee Gyung Kang; Kyung Chul Moon; Il Soo Ha; Yong Choi; Hae Il Cheong

Publisher
Springer
Year
2010
Tongue
English
Weight
231 KB
Volume
26
Category
Article
ISSN
0931-041X

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Aceruloplasminemia: A novel mutation in
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✍ Alfonso Fasano; Cesare Colosimo; Hiroaki Miyajima; Pietro Attilio Tonali; Thomas πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 189 KB

## Abstract Hereditary aceruloplasminemia (HA) is a rare inherited disease characterized by anemia, iron overload, diabetes, and neurodegeneration. HA is caused by the homozygous mutation of the ceruloplasmin (CP) gene. We report two siblings with markedly different phenotypes carrying a novel muta