Two novel mutations of TACSTD2 found in three Japanese gelatinous drop-like corneal dystrophy families with their aberrant subcellular localization

@inproceedings{Nakatsukasa2011TwoNM,
  title={Two novel mutations of TACSTD2 found in three Japanese gelatinous drop-like corneal dystrophy families with their aberrant subcellular localization},
  author={Mina Nakatsukasa and Satoshi Kawasaki and Kenta Yamasaki and Hideki Fukuoka and Akira Matsuda and Kohji Nishida and Shigeru Kinoshita},
  booktitle={Molecular vision},
  year={2011}
}
PURPOSE To report two novel mutation of the tumor-associated calcium signal transducer 2 (TACSTD2) gene in 3 Japanese patients with gelatinous drop-like corneal dystrophy (GDLD). METHODS Genomic DNAs were extracted from the peripheral blood of 3 Japanese families. The coding region of TACSTD2 was amplified by polymerase chain reaction (PCR) and subjected to direct sequencing analysis. Plasmid vectors harboring normal and mutated TACSTD2 were transfected to the immortalized human corneal… CONTINUE READING

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