## 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
Complex phenotype in an Italian family with a novel mutation inSPG3A
✍ Scribed by Maria Fulvia de Leva; Alessandro Filla; Chiara Criscuolo; Alessandra Tessa; Sabina Pappatà; Mario Quarantelli; Leonilda Bilo; Silvio Peluso; Antonella Antenora; Dario Longo; Filippo M. Santorelli; Giuseppe De Michele
- Publisher
- Springer
- Year
- 2009
- Tongue
- English
- Weight
- 428 KB
- Volume
- 257
- Category
- Article
- ISSN
- 0340-5354
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