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Phenotypic variability in three families with valosin-containing protein mutation

✍ Scribed by S. Spina; A. D. Van Laar; J. R. Murrell; R. L. Hamilton; J. K. Kofler; F. Epperson; M. R. Farlow; O. L. Lopez; J. Quinlan; S. T. DeKosky; B. Ghetti


Book ID
117953314
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
662 KB
Volume
20
Category
Article
ISSN
1351-5101

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## 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