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Unexpected and variable phenotypes in a family with JAK3 deficiency

โœ Scribed by Frucht, D M; Gadina, M; Jagadeesh, G J; Aksentijevich, I; Takada, K; Bleesing, J J H; Nelson, J; Muul, L M; Perham, G; Morgan, G


Book ID
110037339
Publisher
Nature Publishing Group
Year
2001
Tongue
English
Weight
711 KB
Volume
2
Category
Article
ISSN
1466-4879

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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