PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.

@article{Hol1996PAXGA,
  title={PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.},
  author={Frans A. Hol and Monique P. A. Geurds and Sansnee Chatkupt and Yin Yao Shugart and Rudi Balling and Constance T. R. M. Schrander-Stumpel and William G. Johnson and Ben C J Hamel and E. C. Mariman},
  journal={Journal of medical genetics},
  year={1996},
  volume={33 8},
  pages={655-60}
}
From studies in the mouse and from the clinical and molecular analysis of patients with type 1 Waardenburg syndrome, particular members of the PAX gene family are suspected factors in the aetiology of human neural tube defects (NTD). To investigate the role of PAX1, PAX3, PAX7, and PAX9, allelic association studies were performed in 79 sporadic and 38 familial NTD patients from the Dutch population. Sequence variation was studied by SSC analysis of the paired domain regions of the PAX1, PAX7… CONTINUE READING