Loss of function variants in <i>PCYT1A</i> causing spondylometaphyseal dysplasia with cone/rod dystrophy have broad consequences on lipid metabolism, chondrocyte differentiation, and lipid droplet formation
Julie A. Jurgens(Boston Children's Hospital), David Valle(Government of the United States of America)
Cited by 0
Related Papers
Finding the missing heritability of complex diseases
|Nature|2009|8.5k
MicroRNA (miRNA) Transcriptome of Mouse Retina and Identification of a Sensory Organ-specific miRNA Cluster
|Journal of Biological Chemistry|2007|481
A unified nomenclature for peroxisome biogenesis factors.
|The Journal of Cell Biology|1996|418
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency
|Journal of Clinical Investigation|2001|118
Centers for Mendelian Genomics: A decade of facilitating gene discovery
|Genetics in Medicine|2022|80