New missense mutation p.Trp387Ser affecting the functionally important TrpXXTrp motif in the TSR1 repeat of ADAMTS13 metalloproteinase: Case report
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DOI: 10.1111/1440-1681.13697
Abstract: Upshaw‐Schulman syndrome (USS)—rare autosomal recessive disease that affects read more here.
Keywords: adamts13 gene; trp387ser; missense mutation; mutation trp387ser ... See more keywords
New missense variants in RELT causing hypomineralised amelogenesis imperfecta
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DOI: 10.1111/cge.13721
Abstract: Amelogenesis imperfecta (AI) is a heterogeneous group of genetic diseases characterised by dental enamel malformation. Pathogenic variants in at least 33 genes cause syndromic or non‐syndromic AI. Recently variants in RELT, encoding an orphan receptor… read more here.
Keywords: new missense; variant; amelogenesis imperfecta; variants relt ... See more keywords
A new missense variant in exon 7 of the ABO gene, c.662G>A, in a family with Bw phenotype
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DOI: 10.1111/trf.17109
Abstract: Weak expression of ABO antigens is encountered in the clinical laboratory occasionally, and subgroups of A are more commonly observed in Europeans than subgroups of B. To date, weakly expressing B variant phenotypes have been… read more here.
Keywords: missense variant; variant exon; variant; new missense ... See more keywords