Total: 1 |
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PMID (PMCID) | ||
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19723515 |
MALE | Middle Aged |
A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency. | ||
Hooper AJ, Robertson K, Ng L, Kattampallil JS, Latchem D, Willsher PC, Thom J, Baker RI, Burnett JR. Clin Chim Acta. 2009;409(1-2):136-9. |
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Histologic analysis of sections of spleen revealed lipid histiocytosis consistent with the diagnosis of Tangier disease. |