• Biology, Medicine
  • Published in Molecular vision 2009

A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus

@inproceedings{Hu2009ANG,
  title={A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus},
  author={Junjie Hu and Desheng Liang and Jinjie Xue and Jing Liu and Lingqian Wu},
  booktitle={Molecular vision},
  year={2009}
}
PURPOSE The purpose of the current research was to detect the underlying genetic defect in a Chinese family with X-linked congenital nystagmus and perform prenatal genetic diagnosis for their current pregnancy. METHODS A common clinical examination and an ophthalmic evaluation were performed on the proband, one carrier, and one unaffected member. Mutation analysis of the G protein-coupled receptor 143 (GPR143) and four-point-one (4.1), ezrin, radixin, moesin (FERM) domain-containing 7 (FRMD7… CONTINUE READING

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A novel GPR143 mutation in a Chinese family with X-linked ocular albinism type 1

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