Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration

Fatty acid hydroxylase-associated neurodegeneration due to fatty acid 2-hydroxylase deficiency presents with a wide range of phenotypes including spastic paraplegia, leukodystrophy, and/or brain iron deposition. All previously described families with this disorder were consanguineous, with homozygou...

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Bibliografische gegevens
Hoofdauteurs: Pierson, Tyler Mark, Simeonov, Dimitre R, Sincan, Murat, Adams, David A, Markello, Thomas, Golas, Gretchen, Fuentes-Fajardo, Karin, Hansen, Nancy F, Cherukuri, Praveen F, Cruz, Pedro, Blackstone, Craig, Tifft, Cynthia, Boerkoel, Cornelius F, Gahl, William A
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2012
Onderwerpen:
Short Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3306865/
https://ncbi.nlm.nih.gov/pubmed/22146942
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.222
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