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Filters: Keyword is Homozygote and Author is Chen, Xue [Clear All Filters]
Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa. Hum Mol Genet. 2018 ;27(23):4157-4168.
. is mutated in a distinct type of Usher syndrome. J Med Genet. 2017 ;54(3):190-195.
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