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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

Ingo Kurth1, Torsten Pamminger, J Christopher Hennings

  • 1Department of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. i.kurth@uke.uni-hamburg.de

Nature Genetics
|October 20, 2009
PubMed

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