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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III.

We report a new Japanese family with tricho-rhino-phalangeal syndrome type III (TRPS III) who have a missense mutation (Arg908Gln) of theTRPS1 gene (TRPS1) in affected individuals of the family. This study supports the notion that TRPS III results from missense mutations in exon 6 of TRPS1.[1]

References

  1. Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III. Kobayashi, H., Hino, M., Shimodahira, M., Iwakura, T., Ishihara, T., Ikekubo, K., Ogawa, Y., Nakao, K., Kurahachi, H. Am. J. Med. Genet. (2002) [Pubmed]
 
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