Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Simon T. Cooper"'
Autor:
Isabel M. Hanson, Simon T. Cooper
Publikováno v:
BMC Genetics, Vol 6, Iss 1, p 43 (2005)
BMC Genetics
BMC Genetics
Background The PAX6 protein is a transcriptional regulator with a key role in ocular and neurological development. Individuals with heterozygous loss-of-function mutations in the PAX6 gene have malformations of the eye and brain. Little is known abou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccd0a2f355b94badacad78ec8733b455
http://www.biomedcentral.com/1471-2156/6/43
http://www.biomedcentral.com/1471-2156/6/43
Autor:
Veronica van Heyningen, Michael P. Clarke, Alison Brown, Piers Ruddle, Isabelle Russell-Eggitt, Alison Salt, Isabel M. Hanson, Alistair R. Fielder, R. Alex Henderson, Simon T. Cooper, Jane A. Hurst, Kathleen A Williamson, Juan Pedro Martinez-Barbera, Birgit Lorenz, Dianne Gerrelli, Charlotte M. Poloschek, Sanjay M. Sisodiya, Nicola K. Ragge, David R. FitzPatrick, J. Richard O. Collin, Pamela J. Thompson
Publikováno v:
Ragge, N K, Brown, A G, Poloschek, C M, Lorenz, B, Henderson, R A, Clarke, M P, Russell-Eggitt, I, Fielder, A, Gerrelli, D, Martinez-Barbera, J P, Ruddle, P, Hurst, J, Collin, J R O, Salt, A, Cooper, S T, Thompson, P J, Sisodiya, S M, Williamson, K A, Fitzpatrick, D R, van Heyningen, V & Hanson, I M 2005, ' Heterozygous mutations of OTX2 cause severe ocular malformations ', American Journal of Human Genetics, vol. 76, no. 6, pp. 1008-22 . https://doi.org/10.1086/430721
Major malformations of the human eye, including microphthalmia and anophthalmia, are examples of phenotypes that recur in families yet often show no clear Mendelian inheritance pattern. Defining loci by mapping is therefore rarely feasible. Using a c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a19c49e1e2c7a4d18a111f125a53a70
https://europepmc.org/articles/PMC1196439/
https://europepmc.org/articles/PMC1196439/
