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Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population

OBJECTIVE: The purpose of this study was to determine the prevalence of mutations in the GJB2 gene, the GJB6-D13S1830 deletion and the four common mitochondrial mutations (A1555G, A3243G, A7511C and A7445G) in a South African population. METHODS: Using single-strand conformation polymorphism and dir...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Int J Pediatr Otorhinolaryngol
Main Authors: Kabahuma, Rosemary I., Ouyang, Xiaomei, Du, Li Lin, Yan, Denise, Hutchin, Tim, Ramsay, Michele, Penn, Claire, Liu, Xue-Zhong
Format: Artigo
Jezik:Inglês
Izdano: 2011
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4303037/
https://ncbi.nlm.nih.gov/pubmed/21392827
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ijporl.2011.01.029
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