De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment
Author:
Funder
Heinsius Houbolt fund
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/article/10.1007/s00439-018-1965-1/fulltext.html
Reference53 articles.
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3. Bortolozzi M, Brini M, Parkinson N, Crispino G, Scimemi P, De Siati RD, Di Leva F, Parker A, Ortolano S, Arslan E, Brown SD, Carafoli E, Mammano F (2010) The novel PMCA2 pump mutation Tommy impairs cytosolic calcium clearance in hair cells and links to deafness in mice. J Biol Chem 285:37693–37703. https://doi.org/10.1074/jbc.M110.170092
4. Bosman AJ, Smoorenburg GF (1995) Intelligibility of Dutch CVC syllables and sentences for listeners with normal hearing and with three types of hearing impairment. Audiology 34:260–284
5. Boumil RM, Letts VA, Roberts MC, Lenz C, Mahaffey CL, Zhang ZW, Moser T, Frankel WN (2010) A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice. PLoS Genet 6. https://doi.org/10.1371/journal.pgen.1001046
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