Double homozygosity for mutations of AGL and SCN9A... [Neurology. 2008] - PubMed

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Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. [Clin Genet. 2007]
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.
Goldberg YP, MacFarlane J, MacDonald ML, Thompson J, Dube MP, Mattice M, Fraser R, Young C, Hossain S, Pape T, et al. Clin Genet. 2007 Apr; 71(4):311-9.
A nonsense mutation in the SCN9A gene in congenital insensitivity to pain. [Dermatology. 2010]
A nonsense mutation in the SCN9A gene in congenital insensitivity to pain.
Kurban M, Wajid M, Shimomura Y, Christiano AM. Dermatology. 2010; 221(2):179-83. Epub 2010 Jul 13.
An SCN9A channelopathy causes congenital inability to experience pain. [Nature. 2006]
An SCN9A channelopathy causes congenital inability to experience pain.
Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y, et al. Nature. 2006 Dec 14; 444(7121):894-8.
Review Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders. [J Clin Invest. 2007]
Review Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders.
Drenth JP, Waxman SG. J Clin Invest. 2007 Dec; 117(12):3603-9.
Review A life without pain? Hedonists take note. [Clin Genet. 2008]
Review A life without pain? Hedonists take note.
Young FB. Clin Genet. 2008 Jan; 73(1):31-3. Epub 2007 Dec 6.

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts. [Mol Vis. 2011]
Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.
Ahmad A, Daud S, Kakar N, Nürnberg G, Nürnberg P, Babar ME, Thoenes M, Kubisch C, Ahmad J, Bolz HJ. Mol Vis. 2011; 17:1940-5. Epub 2011 Jul 16.
A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness. [Eur J Hum Genet. 2009]
A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.
Mégarbané A, Slim R, Nürnberg G, Ebermann I, Nürnberg P, Bolz HJ. Eur J Hum Genet. 2009 Aug; 17(8):1076-9. Epub 2009 Feb 4.

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