Novel human pathological mutations

@article{Johansen2006NovelHP,
  title={Novel human pathological mutations},
  author={Terje Johansen and Tor Jac Eide and Roque Daniel Carrero-Valenzuela and Trist{\'a}n Antelo and Jorge Fagalde and Daniela Merched and Jos{\'e} E. Mart{\'i}nez and Glen L. Wilson and Xi-yu He and Cathy M. Tuck-Muller and Paul M Maertens and W. Wertelecki and Tian-jian Chen},
  journal={Human Genetics},
  year={2006},
  volume={121},
  pages={287-299}
}