Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema.
Τίτλος | Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema. |
Publication Type | Journal Article |
Year of Publication | 2018 |
Authors | Fastré, E., Lanteigne L-E., Helaers R., Giacalone G., Revencu N., Dionyssiou D., Demiri E., Brouillard P., & Vikkula M. |
Journal | Clin Genet |
Volume | 94 |
Issue | 1 |
Pagination | 179-181 |
Date Published | 2018 07 |
ISSN | 1399-0004 |
Λέξεις κλειδιά | DNA Mutational Analysis, Genetic Association Studies, Genetic Loci, Humans, Loss of Function Mutation, Lymphedema, Pedigree, Phenotype, RNA Splice Sites, Vascular Endothelial Growth Factor C |
DOI | 10.1111/cge.13204 |
Alternate Journal | Clin Genet |
PubMed ID | 29542815 |