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Showing results for jia huan han
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A 7666-bp genomic deletion is frequent in Chinese Han deaf patients with non-syndromic enlarged vestibular aqueduct but without bi-allelic SLC26A4 mutations.
Pang X, Chai Y, He L, Chen P, Wang X, Li L, Jia H, Wu H, Yang T. Pang X, et al. Among authors: jia h. Int J Pediatr Otorhinolaryngol. 2015 Dec;79(12):2248-52. doi: 10.1016/j.ijporl.2015.10.015. Epub 2015 Oct 23. Int J Pediatr Otorhinolaryngol. 2015. PMID: 26549381
METHODS: Presence of a homozygous genomic deletion was detected in a Chinese Han deaf patient (D1467-1) who failed to amplify the first three exons of SLC26A4. ...CONCLUSION: Our results suggested that the cryptic c.-2071_307+3801del7666 deletion of SLC26A4 is relatively f …
METHODS: Presence of a homozygous genomic deletion was detected in a Chinese Han deaf patient (D1467-1) who failed to amplify the fir …