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Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages

Background: Lenz-Majewski syndrome (LMS) is characterized by osteosclerosis and hyperostosis of skull, vertebrae and tubular bones as well as craniofacial, dental, cutaneous, and digit abnormalities. We previously found that LMS is caused by de novo dominant missense mutations in the  PTDSS1 gene, w...

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Detalles Bibliográficos
Autores principales: Seda, Marian, Peskett, Emma, Demetriou, Charalambos, Bryant, Dale, Moore, Gudrun E., Stanier, Philip, Jenkins, Dagan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6557000/
https://www.ncbi.nlm.nih.gov/pubmed/31231513
http://dx.doi.org/10.12688/f1000research.17314.1