Article
Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus.
QJM : monthly journal of the Association of Physicians - 1 Nov 1994
Logan J I, Harveyson K B, Wisdom G B, Hughes A E, Archbold G P
Abstract excerpt
We report two brothers with complete caeruloplasmin deficiency. The brothers presented with dementia and diabetes mellitus. Twelve relatives have partial caeruloplasmin deficiency. There is no copper overload. Transmission is autosomal recessive. DNA analysis showed genetic linkage between the deficiency and various polymorphic markers flanking the caeruloplasmin gene on chromosome 3q25. This is consistent with a...
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