Genetic Testing and Molecular Biomarkers · 2018 · 25 citations · 12 references
Our results provide strong evidence that STRC gene mutations are an important cause of NSHL-AR in Czech HL patients and are probably the second most common cause of DFNB. Large CNVs were more frequent than point mutations and it is reasonable to test them first by a QF-PCR method-a simple, accessible, and efficient tool for STRC CNV detection, which can be combined by MLPA.
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Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 30.5K citations · Full text
Heather Fortnum, C. Yoshinaga-Itano, Sally Hind · BMJ · 2001 · 488 citations · Full text