- Novel c.300_301delinsT Mutation in PITX2 in a Korean Family with Axenfeld-Rieger Syndrome
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Yun JW, Cho HK, Oh SY, Ki CS, Kee C
- KMID: 1781343
- Ann Lab Med.
- 2013 Sep;33(5):360-363.
- doi: 10.3343/alm.2013.33.5.360
Axenfeld-Rieger syndrome (ARS) is characterized by anomalies of the anterior segment of the eye and systemic abnormalities. Mutations in the FOXC1 and PITX2 genes are underlying causes of ARS, but... -
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- Identification and functional characterization of an alternative splice variant within the fourth exon of human nanog
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Kim JS, Kim J, Kim BS, Chung HY, Lee YY, Park CS, Lee YS, Lee YH, Chung IY
- KMID: 1116205
- Exp Mol Med.
- 2005 Dec;37(6):601-607.
Nanog, a homeodomain (HD) transcription factor, plays a critical role in the maintenance of embryonic stem (ES) cell self-renewal. Here, we report the identification of an alternatively-spliced variant of nanog.... -
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