TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia

BACKGROUND: Threonine Aspartase 1 (Taspase 1) is a highly conserved site‐specific protease whose substrates are broad‐acting nuclear transcription factors that govern diverse biological programs, such as organogenesis, oncogenesis, and tumor progression. To date, no single base pair mutations in Tas...

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Detalles Bibliográficos
Autores principales: Balkin, Daniel M., Poranki, Menitha, Forester, Craig M., Dorsey, Morna J., Slavotinek, Anne, Pomerantz, Jason H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732342/
https://www.ncbi.nlm.nih.gov/pubmed/31350873
http://dx.doi.org/10.1002/mgg3.818

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732342/
https://www.ncbi.nlm.nih.gov/pubmed/31350873
http://dx.doi.org/10.1002/mgg3.818

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