High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region.

@article{Wang2003HighRM,
  title={High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region.},
  author={Congyi Wang and Abodoreza Davoodi-Semiromi and J Shi and Ping Yang and Yi-qun Huang and Jos{\'e} A. G. Ag{\'u}ndez and Jose M Moran and Bernardo Ochoa and Bobbilynn Hawkins-Lee and Jin-Xiong She},
  journal={American journal of medical genetics. Part A},
  year={2003},
  volume={119A 1},
  pages={9-14}
}
The urofacial (Ochoa) syndrome (UFS) characterized by congenital obstructive uropathy and abnormal facial expression is a rare disorder caused by a single recessive disease gene. Our previous studies using homozygosity mapping have located the UFS gene to a genomic interval of approximately 360 kb on chromosome 10q23-10q24. In this study, we have constructed a genomic sequence map covering the entire UFS interval and narrowed the disease interval to a genomic region of 220 kb that harbor the… CONTINUE READING

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