期刊
TRENDS IN MOLECULAR MEDICINE
卷 10, 期 3, 页码 106-109出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.molmed.2004.01.003
关键词
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Bardet-Biedl Syndrome (BBS) is a genetic disorder with the primary features of retinal dystrophy, obesity, polydactyly, structural and functional renal abnormalities, and learning disabilities. In addition to displaying remarkable pleiotropy, BBS is a heterogeneous disorder with linkage to at least eight loci. The identification of the first five BBS genes provided little insight into BIBS protein function. Ansley et al. have now identified a sixth BBS gene (BBS8) and provide evidence that the BBS8 protein and other BBS proteins localize to the basal body of ciliated cells, suggesting that BBS is a ciliary dysfunction disorder.
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