Whole-exome sequencing identifies novel mutations in genes responsible for retinitis pigmentosa in 2 nonconsanguineous Chinese families.
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DOI: 10.18240/ijo.2019.06.06
Abstract: AIM To detect the pathogenetic mutations responsible for nonsyndromic autosomal recessive retinitis pigmentosa (RP) in 2 nonconsanguineous Chinese families. METHODS The clinical data, including detailed medical history, best corrected visual acuity (BCVA), slit-lamp biomicroscope examination,… read more here.
Keywords: nonconsanguineous chinese; exome sequencing; novel mutations; whole exome ... See more keywords