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Keywords: Missense mutation
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Journal Articles

A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia

Ann M. Flenniken, Lucy R. Osborne, Nicole Anderson, Nadia Ciliberti, Craig Fleming, Joanne E. I. Gittens, Xiang-Qun Gong, Lois B. Kelsey, Crystal Lounsbury, Luisa Moreno, Brian J. Nieman, Katie Peterson, Dawei Qu, Wendi Roscoe, Qing Shao, Dan Tong, Gregory I. L. Veitch, Irina Voronina, Igor Vukobradovic, Geoffrey A. Wood, Yonghong Zhu, Ralph A. Zirngibl, Jane E. Aubin, Donglin Bai, Benoit G. Bruneau, Marc Grynpas, Janet E. Henderson, R. Mark Henkelman, Colin McKerlie, John G. Sled, William L. Stanford, Dale W. Laird, Gerald M. Kidder, S. Lee Adamson, Janet Rossant
Journal: Development
Development (2005) 132 (19): 4375–4386.
https://doi.org/10.1242/dev.02011
Published: 1 October 2005
...., 2004 ; Paznekas et al., 2003 ; Richardson et al., 2004 ; van Steensel et al., 2005 ; Vitiello et al., 2005 ) are highlighted in red with the Gja1 Jrt mutation (G60S)highlighted in black. Missense mutations are denoted by the correct amino acid followed by the number and the substituted amino...
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Includes: Supplementary data
Journal Articles

An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function

Giuliana Caronia, Frances R. Goodman, Carole M. E. McKeown, Peter J. Scambler, Vincenzo Zappavigna
Journal: Development
Development (2003) 130 (8): 1701–1712.
https://doi.org/10.1242/dev.00396
Published: 15 April 2003
... co-segregates with a missense mutation that substitutes leucine for isoleucine at position 47 of the HOXD13 homeodomain. We compared the HOXD13(I47L) mutant protein both in vitro and in vivo to the wild-type protein and to an artificial HOXD13 mutant, HOXD13(IQN), which is completely unable to bind...
View articletitled, An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function
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