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pro vyhledávání: '"J. Helen Blair"'
Autor:
Elias O. Da Silva, Judith A. Goodship, Cecilia Espinoza-Valdez, J. Helen Blair, Ben C.J. Hamel, Michael Wright, Stuart W. Tompson, John L. Gibbs, Victor L. Ruiz-Perez, Ian D. Young, Pablo Lapunzina
Publikováno v:
American Journal of Human Genetics, 72, 728-32
American Journal of Human Genetics, 72, 3, pp. 728-32
American Journal of Human Genetics, 72, 3, pp. 728-32
Item does not contain fulltext Ellis-van Creveld syndrome (EvC) is an autosomal recessive skeletal dysplasia. Elsewhere, we described mutations in EVC in patients with this condition (Ruiz-Perez et al. 2000). We now report that mutations in EVC2 also
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c08e0ff68b1c1172148ed739bc4ec83a
http://hdl.handle.net/2066/166897
http://hdl.handle.net/2066/166897
