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

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Published in Eur J Hum Genet on December 07, 2011

Authors

Tyler Mark Pierson1, Dimitre R Simeonov, Murat Sincan, David A Adams, Thomas Markello, Gretchen Golas, Karin Fuentes-Fajardo, Nancy F Hansen, Praveen F Cherukuri, Pedro Cruz, James C Mullikin, Craig Blackstone, Cynthia Tifft, Cornelius F Boerkoel, William A Gahl, NISC Comparative Sequencing Program

Author Affiliations

1: NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, 35 Convent Drive, Bethesda, MD 20892, USA.piersonty@ninds.nih.gov

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