First identification of PODXL nonsense mutations in autosomal dominant focal segmental glomerulosclerosis.
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DOI: 10.1042/cs20180676
Abstract: Recently, a novel heterozygous missense mutation c.T1421G (p. L474R) in the PODXL gene encoding podocalyxin was identified in an autosomal dominant focal segmental glomerulosclerosis (AD-FSGS) pedigree. However, this PODXL mutation appeared not to impair podocalyxin… read more here.
Keywords: podxl nonsense; nonsense mutations; dominant focal; autosomal dominant ... See more keywords