Large Contiguous Gene Deletions in Sjögren-Larsson Syndrome

Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme that catalyzes the oxidation of fatty aldehyde to fatty acid. More than 70 mutations have been i...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Engelstad, Holly, Carney, Gael, S'Aulis, Dana, Rise, Janae, Sanger, Warren G., Rudd, M. Katharine, Richard, Gabriele, Carr, Christopher W., Abdul-Rahman, Omar A., Rizzo, William B.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2011
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3196763/
https://ncbi.nlm.nih.gov/pubmed/21684788
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2011.05.015
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