期刊
JOURNAL OF INVESTIGATIVE DERMATOLOGY
卷 142, 期 4, 页码 1002-1003出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.jid.2022.02.008
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类别
资金
- National Institutes of Health (NIH)/National Institute of General Medical Sciences (NIGMS) [R01GM122091]
Significant progress has been made in understanding pseudoxanthoma elasticum (PXE), and researchers have proposed a novel in vivo model for characterizing and annotating ABCC6 variants.
Significant progress has been made in understanding pseudoxanthoma elasticum (PXE), which results from mutations in ABCC6. The low prevalence of PXE and its heterotypic presentation confound genotype-phenotype correlations and the characterization of many identified variants. Kowal et al. (2022) present an in vivo model to characterize and annotate ABCC6 variants, establishing a novel system for allele annotation in the patient population.
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