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Marked phenotypic variation in a family with a new myelin protein zero mutation

✍ Scribed by A. Szabo; S. Züchner; E. Siska; F. Mechler; M.J. Molnar

Book ID
116792363
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
138 KB
Volume
15
Category
Article
ISSN
0960-8966

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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