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A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
Hum Mutat. 2008 Jun;29(6):823-31. doi: 10.1002/humu.20708.
Hum Mutat. 2008.
PMID: 18381613
X-linked non-syndromic sensorineural deafness: the DFN6 locus.
del Castillo I, Rodríguez M, Cruz Tapia M, Moreno F.
del Castillo I, et al. Among authors: cruz tapia m.
Adv Otorhinolaryngol. 2000;56:200-2. doi: 10.1159/000059100.
Adv Otorhinolaryngol. 2000.
PMID: 10868236
Review.
No abstract available.
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Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.
del Castillo FJ, Rodríguez-Ballesteros M, Martín Y, Arellano B, Gallo-Terán J, Morales-Angulo C, Ramírez-Camacho R, Cruz Tapia M, Solanellas J, Martínez-Conde A, Villamar M, Moreno-Pelayo MA, Moreno F, del Castillo I.
del Castillo FJ, et al. Among authors: cruz tapia m.
J Med Genet. 2003 Aug;40(8):632-6. doi: 10.1136/jmg.40.8.632.
J Med Genet. 2003.
PMID: 12920080
Free PMC article.
No abstract available.
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