Article
Audiologic and genetic features of the A3243G mtDNA mutation.
Genetic testing and molecular biomarkers - 1 May 2013
Vivero Richard J, Ouyang Xiaomei, Kim Yeunjung Grant, Liu Wendy, Du Lilin, Yan Denise, Liu Xue Zhong
Abstract excerpt
BACKGROUND: Mitochondrial mutations have been shown to be responsible for syndromic and nonsyndromic hearing impairment. AIM: To assess the genotypic-phenotypic correlation of mitochondrial DNA mutations in three generations of a single family. METHODS: A single family with maternally inherited diabetes and hearing loss was recruited. Genomic DNA was subject to polymerase chain reaction-restriction fragment...
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