(The Scientist, Vol:10, #6, p. 14, March 18, 1996)
R. Shiang, L.M. Thompson, Y. Zhu, D.M. Church, T.J. Fielder, M. Bocian, S.T. Winokur, J.J. Wasmuth, "Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia," Cell, 78:335-42, 1994. (Cited in more than 70 publications as of February 1996)
Comments by Leslie M. Thompson and Rita Shiang, University of California, Irvine
The past decade or so has seen the discovery of a number of disease genes. This paper adds another gene to the list. In this case, researchers at the University of California, Irvine, taking advantage of a decade-long hunt for the Huntington's disease gene, found a nearby gene mutation that causes achondroplasia, the most common genetic form of dwarfism.
GENE-FINDER: UC-Irvine gene researcher John Wasmuth, who died last year, led the team that found a dwarfish gene. In 1994, several reports linked achondroplasia to ...
