Identification of human D lactate dehydrogenase deficiency

Phenotypic and biochemical categorization of humans with detrimental variants can provide valuable information on gene function. We illustrate this with the identification of two different homozygous variants resulting in enzymatic loss-of-function in LDHD, encoding lactate dehydrogenase D, in two u...

Descripción completa

Detalles Bibliográficos
Autores principales: Monroe, Glen R., van Eerde, Albertien M., Tessadori, Federico, Duran, Karen J., Savelberg, Sanne M. C., van Alfen, Johanna C., Terhal, Paulien A., van der Crabben, Saskia N., Lichtenbelt, Klaske D., Fuchs, Sabine A., Gerrits, Johan, van Roosmalen, Markus J., van Gassen, Koen L., van Aalderen, Mirjam, Koot, Bart G., Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J., Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G. M., Knoers, Nine V., Bakkers, Jeroen, Verhoeven-Duif, Nanda M., van Haaften, Gijs, Jans, Judith J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6443703/
https://www.ncbi.nlm.nih.gov/pubmed/30931947
http://dx.doi.org/10.1038/s41467-019-09458-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6443703/
https://www.ncbi.nlm.nih.gov/pubmed/30931947
http://dx.doi.org/10.1038/s41467-019-09458-6

Ejemplares similares