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References

These sources were used to develop the Genetics Home Reference gene summary on the PRPH gene.

Corrado L, Carlomagno Y, Falasco L, Mellone S, Godi M, Cova E, Cereda C, Testa L, Mazzini L, D'Alfonso S. A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient. Neurobiol Aging. 2011 Mar;32(3):552.e1-6. doi: 10.1016/j.neurobiolaging.2010.02.011. Epub 2010 Apr 3. PubMed citation
Entrez Gene
Gros-Louis F, Larivière R, Gowing G, Laurent S, Camu W, Bouchard JP, Meininger V, Rouleau GA, Julien JP. A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis. J Biol Chem. 2004 Oct 29;279(44):45951-6. Epub 2004 Aug 17. PubMed citation
Leung CL, He CZ, Kaufmann P, Chin SS, Naini A, Liem RK, Mitsumoto H, Hays AP. A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis. Brain Pathol. 2004 Jul;14(3):290-6. PubMed citation
OMIM: PERIPHERIN
Xiao S, McLean J, Robertson J. Neuronal intermediate filaments and ALS: a new look at an old question. Biochim Biophys Acta. 2006 Nov-Dec;1762(11-12):1001-12. Epub 2006 Sep 12. Review. PubMed citation

Reviewed: August 2012

Published: May 20, 2013