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NovelATP13A2(PARK9) homozygous mutation in a family with marked phenotype variability

✍ Scribed by Lucio Santoro; Guido J. Breedveld; Fiore Manganelli; Rosa Iodice; Chiara Pisciotta; Maria Nolano; Francesca Punzo; Mario Quarantelli; Sabina Pappatà; Alessio Di Fonzo; Ben A. Oostra; Vincenzo Bonifati

Publisher
Springer
Year
2010
Tongue
English
Weight
724 KB
Volume
12
Category
Article
ISSN
1364-6745

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Aceruloplasminemia: A novel mutation in
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✍ Alfonso Fasano; Cesare Colosimo; Hiroaki Miyajima; Pietro Attilio Tonali; Thomas 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 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