Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia

Very-long-chain fatty acids (VLCFAs) play important roles in membrane structure and cellular signaling, and their contribution to human health is increasingly recognized. Fatty acid elongases catalyze the first and rate-limiting step in VLCFA synthesis. Heterozygous mutations in ELOVL4, the gene enc...

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Hlavní autoři: Aldahmesh, Mohammed A., Mohamed, Jawahir Y., Alkuraya, Hisham S., Verma, Ishwar C., Puri, Ratna D., Alaiya, Ayodele A., Rizzo, William B., Alkuraya, Fowzan S.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3234380/
https://ncbi.nlm.nih.gov/pubmed/22100072
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.10.011
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