The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P

Human linkage and association studies suggest a gene(s) for nonsyndromic cleft lip with or without cleft palate (CL/P) on chromosome 4q31–q32 at or near the platelet-derived growth factor-C (PDGF-C) locus. The mouse Pdgfc(−/−) knockout shows that PDGF-C is essential for palatogenesis. To evaluate th...

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Detalhes bibliográficos
Principais autores: Choi, Sun J, Marazita, Mary L, Hart, P Suzanne, Sulima, Pawel P, Field, L Leigh, McHenry, Toby Goldstein, Govil, Manika, Cooper, Margaret E, Letra, Ariadne, Menezes, Renato, Narayanan, Somnya, Mansilla, Maria Adela, Granjeiro, José M, Vieira, Alexandre R, Lidral, Andrew C, Murray, Jeffrey C, Hart, Thomas C
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2788748/
https://ncbi.nlm.nih.gov/pubmed/19092777
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.245
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