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  • Title: Single nucleotide polymorphisms of RXRA encoding retinoid X receptor alpha.
    Author: Hegele RA, Cao H.
    Journal: J Hum Genet; 2001; 46(7):423-5. PubMed ID: 11450851.
    Abstract:
    Retinoic X receptor alpha (RXRA), encoded by RXRA, plays a key role in development and metabolism, specifically in adipocyte biology, glucose homeostasis, and intestinal cholesterol balance. RXRA is also a positional candidate gene for Berardinelli-Seip congenital lipodystrophy. We report the systematic screening of RXRA coding regions by genomic DNA sequencing, which has resulted in the identification of three novel single-nucleotide polymorphisms.
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