A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

We recently reported a deletion of exon 2 of the trimethyllysine hydroxylase epsilon (TMLHE) gene in a proband with autism. TMLHE maps to the X chromosome and encodes the first enzyme in carnitine biosynthesis, 6-N-trimethyllysine dioxygenase. Deletion of exon 2 of TMLHE causes enzyme deficiency, re...

Descrición completa

Gardado en:
Detalles Bibliográficos
Main Authors: Celestino-Soper, Patrícia B. S., Violante, Sara, Crawford, Emily L., Luo, Rui, Lionel, Anath C., Delaby, Elsa, Cai, Guiqing, Sadikovic, Bekim, Lee, Kwanghyuk, Lo, Charlene, Gao, Kun, Person, Richard E., Moss, Timothy J., German, Jennifer R., Huang, Ni, Shinawi, Marwan, Treadwell-Deering, Diane, Szatmari, Peter, Roberts, Wendy, Fernandez, Bridget, Schroer, Richard J., Stevenson, Roger E., Buxbaum, Joseph D., Betancur, Catalina, Scherer, Stephen W., Sanders, Stephan J., Geschwind, Daniel H., Sutcliffe, James S., Hurles, Matthew E., Wanders, Ronald J. A., Shaw, Chad A., Leal, Suzanne M., Cook, Edwin H., Goin-Kochel, Robin P., Vaz, Frédéric M., Beaudet, Arthur L.
Formato: Artigo
Idioma:Inglês
Publicado: National Academy of Sciences 2012
Assuntos:
Biological Sciences
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3361440/
https://ncbi.nlm.nih.gov/pubmed/22566635
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1120210109
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares