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Pediatr Hematol Oncol. 2002 Sep;19(6):413-9.

A novel missense mutation in the DKC1 gene in a Japanese family with X-linked dyskeratosis congenita.

Author information

1
Department of Pediatrics, Shiga Medical Center for Children, Moriyama-City, Japan.

Abstract

The authors report 2 male patients with dyskeratosis congenita (DC) in a Japanese kindred. Sequencing of the complementary DNA of the dyskerin gene (DKC1) revealed a T-to-C transition at nucleotide 1285 in exon 12 that resulted in a novel missense mutation L398P. Despite harboring the same mutation in the DKC1 gene, one patient had significantly milder hematological symptoms than the other, indicating that there may be other factors that determine the severity of DC.

PMID:
12186364
DOI:
10.1080/08880010290097170
[Indexed for MEDLINE]

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