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Article
Open AccessGenotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort
To date, certain efforts have been made to investigate the clinical and genetic characteristics of patients with EYS mutations. However, data for Chinese patients are limited.
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Article
Open AccessFrequency and phenotypic characteristics of RPE65 mutations in the Chinese population
The retinoid isomerohydrolase RPE65 has received considerable attention worldwide since a successful clinical gene therapy was approved in 2017 as the first treatment for vision loss associated with RPE65-mediate...
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Article
Open AccessNovel variants of ABCA4 in Han Chinese families with Stargardt disease
Stargardt disease (STGD1) is a common recessive hereditary macular dystrophy in early adulthood or childhood, with an estimated prevalence of 1:8000 to 1:10,000. ABCA4 is the causative gene for STGD1. The current...
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Article
Open AccessNext-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses
To report the clinical and genetic findings from seven Chinese patients with choroideremia.
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Article
Open AccessExpanding the clinical and genetic spectrum of Heimler syndrome
Heimler syndrome (HS) is a rare hereditary systemic disorder, partial clinically overlap** with Usher syndrome. So far, our knowledge of HS is very limited, many cases are misdiagnosed or may not even be dia...
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Article
Uncertainty evaluation for the determination of repaglinide in human plasma by LC–MS/MS
Measurement uncertainty although introduced to medical laboratories some years ago, this concept is not familiar to all medical researchers, especially for the measurement of biological samples. Therefore, it ...
