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Items: 2

1.

A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.

Zelinger L, Banin E, Obolensky A, Mizrahi-Meissonnier L, Beryozkin A, Bandah-Rozenfeld D, Frenkel S, Ben-Yosef T, Merin S, Schwartz SB, Cideciyan AV, Jacobson SG, Sharon D.

Am J Hum Genet. 2011 Feb 11;88(2):207-15. doi: 10.1016/j.ajhg.2011.01.002.

2.

A novel mutation in COQ2 leading to fatal infantile multisystem disease.

Jakobs BS, van den Heuvel LP, Smeets RJ, de Vries MC, Hien S, Schaible T, Smeitink JA, Wevers RA, Wortmann SB, Rodenburg RJ.

J Neurol Sci. 2013 Mar 15;326(1-2):24-8. doi: 10.1016/j.jns.2013.01.004. Review.

PMID:
23343605

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