Article

Expression and subcellular localization of <i>USH1C</i> /harmonin in the human retina provide insights into pathomechanisms and therapy

2021-08-27

Abstract excerpt

Usher syndrome (USH) is the most common form of hereditary deafness-blindness in humans. USH is a complex genetic disorder, assigned to three clinical subtypes differing in onset, course, and severity, with USH1 being the most severe. Rodent USH1 models do not reflect the ocular phenotype observed in human patients to date; hence, little is known about the pathophysiology of USH1 in the human eye. One of the USH1...

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Literature Corpus work: 17dca61a-2dfa-5b41-93bc-c85dc12ece55
DOI: 10.1101/2021.08.27.457962

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