Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
Latham, Sharissa L., Ehmke, Nadja, Reinke, Patrick Y. A., Taft, Manuel H., Eicke, Dorothee, Reindl, Theresia, Stenzel, Werner, Lyons, Michael J., Friez, Michael J., Lee, Jennifer A., Hecker, Ramona, Frühwald, Michael C., Becker, Kerstin, Neuhann, Teresa M., Horn, Denise, Schrock, Evelin, Niehaus, Indra, Sarnow, Katharina, Grützmann, Konrad, Gawehn, Luzie, Klink, Barbara, Rump, Andreas, Chaponnier, Christine, Figueiredo, Constanca, Knöfler, Ralf, Manstein, Dietmar J., Di Donato, Nataliya
Published in Nature communications (12.10.2018)
Published in Nature communications (12.10.2018)
Get full text
Journal Article
Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
Latham, Sharissa L., Ehmke, Nadja, Reinke, Patrick Y. A., Taft, Manuel H., Eicke, Dorothee, Reindl, Theresia, Stenzel, Werner, Lyons, Michael J., Friez, Michael J., Lee, Jennifer A., Hecker, Ramona, Frühwald, Michael C., Becker, Kerstin, Neuhann, Teresa M., Horn, Denise, Schrock, Evelin, Niehaus, Indra, Sarnow, Katharina, Grützmann, Konrad, Gawehn, Luzie, Klink, Barbara, Rump, Andreas, Chaponnier, Christine, Figueiredo, Constanca, Knöfler, Ralf, Manstein, Dietmar J., Di Donato, Nataliya
Published in Nature communications (19.11.2018)
Published in Nature communications (19.11.2018)
Get full text
Journal Article
Thrombocytopenia Microcephaly Syndrome - a novel phenotype associated with ACTB mutations
Latham, Sharissa L, Ehmke, Nadja, Patrick Ya Reinke, Taft, Manuel H, Lyons, Michael J, Friez, Michael J, Lee, Jennifer A, Hecker, Ramona, Fruehwald, Michael C, Becker, Kerstin, Neuhann, Teresa M, Horn, Denise, Schrock, Evelin, Sarnow, Katharina, Gruetzmann, Konrad, Gawehn, Luzie, Klink, Barbara, Rump, Andreas, Chaponnier, Christine, Knoefler, Ralf, Manstein, Dietmar J, Nataliya Di Donato
Published in bioRxiv (18.04.2018)
Published in bioRxiv (18.04.2018)
Get full text
Paper