Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family.
Khan T, Khan M, Yousaf A, Khan S, Naeem M, Shah A, Murtaza G, Ali A, Jabeen N, Hussain HMJ, Ma H, Zhang Y, Zubair M, Jiang X, Zhang H.
Khan T, et al.
J Hum Genet. 2018 Oct;63(10):1071-1076. doi: 10.1038/s10038-018-0491-2. Epub 2018 Jul 23.
J Hum Genet. 2018.
PMID: 30033443
Clinical Trial.
Whole exome sequencing and subsequent Sanger sequencing identified a pathogenic novel missense mutation (c.1390G>A, p.Glu464Lys) in PLCD1, co-segregating with the disorder in an autosomal dominant pattern. In silico prediction tools supported the pathogenicity of the id …
Whole exome sequencing and subsequent Sanger sequencing identified a pathogenic novel missense mutation (c.1390G>A, p.Glu464Lys) in PLCD1 …