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Article

X‐linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the <i>ABC7</i> gene predicting V411L

1 Dec 2001

Abstract excerpt

Two brothers with X-linked ataxia (XLA) were found to have hypochromic red cells and increased erythrocyte protoporphyrin despite normal iron stores. The mother was unaffected by ataxia and had normal iron stores but showed evidence of some red cell hypochromia with heavy basophilic stippling that stained positive for iron. Bone marrow biopsy confirmed the presence of ring sideroblasts in one of the brothers. The...

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PMID: 11843825
DOI: 10.1046/j.1365-2141.2001.03015.x

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