A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy

@article{Seto2007ANM,
  title={A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy},
  author={Takahiko Seto and Keiko Fujiki and Hitoshi Kishishita and Takuro Fujimaki and Akira Murakami and Atsushi Kanai},
  journal={Japanese Journal of Ophthalmology},
  year={2007},
  volume={52},
  pages={224-226}
}
To report a novel mutation in the keratin 12 gene (KRT12) found in a Japanese family in association with Meesmann corneal dystrophy (MECD). After informed consent was obtained, genomic DNA was extracted from the leukocytes of the peripheral blood of the proband, her affected father, normal mother, and 50 normal unrelated volunteers. Exons 1–8 of the KRT12 gene were amplified by polymerase chain reaction and directly sequenced. A novel heterozygous T to G transversion at the second nucleotide… CONTINUE READING
5 Citations
5 References
Similar Papers

References

Publications referenced by this paper.

Similar Papers

Loading similar papers…