| Literature DB >> 11286381 |
M Togo1, T Toda, L A Nguyen, S Kubota, K Tsukamoto, H Satoh, M Hara, N Iso-o, H Noto, S Kimura, K Nakahara, Y Seyama, Y Hashimoto.
Abstract
Two women with multiple xanthomas, intermittent arthritis and thrombocytopenia were diagnosed as phytosterolaemia, an autosomal-recessive lipid storage disease, based on their increased serum concentrations of beta-sitosterol, campesterol and sitostanol. The gene responsible for this disease is located within a distance of 18 cM between microsatellite markers of D2S 1788 and D2S1352 at chromosome 2p21. We genotyped the patients and their family members with 16 microsatellite markers around this locus. The results from the homozygosity mapping of one family suggested that the gene was located within the distance of 12.6 cM between D2S2328 and D2S1352. We have shortened the genetic distance by 5.4 cM.Entities:
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Year: 2001 PMID： 11286381 DOI： 10.1023/a:1005650605042
Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982