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Potential participants were contacted based on their rs738409 genotype in the Michigan Genomics Initiative (MGI), a research initiative that collects and genotypes blood samples and allows researchers to link this genetic information to patients. As part of the initiative, participants had already provided informed consent for broad research purposes [24]. Participants interested in our pilot study were referred to a webpage that described the trial and linked to an online screening survey (Qualtrics).
JMIR Form Res 2025;9:e60051
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Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis
Discordance between phenotype classification and patient genotype may be influenced by differences in the age of diagnosis [7].
Tomatsu et al [8] found that among missense variants, the most common variants were associated with a classic phenotype (63 cases) or an attenuated phenotype (30 cases).
JMIR Res Protoc 2024;13:e56649
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Response: In general, the change in SNP genotype may alter the amino acid sequence (nonsynonmous SNP) or may not cause a change in the amino acid sequence (synonymous SNP). In this regard, we are particularly interested in investigating the status of the interferon gene cluster, which might partially explain the permissiveness of the cell line to animal viruses.
4. How was the FOH-SA cell line authenticated at the European Collection of Authenticated Cell Cultures?
JMIRx Bio 2024;2:e62911
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Allele and genotype frequencies were calculated by direct counting, and the chi-square test was used to compare frequencies between cases and controls. The Hardy-Weinberg equilibrium was tested in both groups using the chi-square goodness-of-fit test. The level of statistical significance was set at P
The clinical characteristics of the study population is described in Table 1.
JMIR Dermatol 2023;6:e39567
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