合計: 1 |
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PMID (PMCID) | ||
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11257260 |
FEMALE | Middle Aged |
A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease. | ||
Bertolini S, Pisciotta L, Seri M, Cusano R, Cantafora A, Calabresi L, Franceschini G, Ravazzolo R, Calandra S. Atherosclerosis. 2001;154(3):599-605. |
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However, none of the other features of Tangier disease, including hepatomegaly, anemia and peripheral neuropathy, were present. |