A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria
Li, M. ; Jiang, Y. X. ; Liu, J. B. ; Yang, S. ; He, P. P. ; Gao, M. ; Wei, S. C. ; Yan, K. L. ; Huang, W. ; Zhang, X. J.
Oxford, UK : Blackwell Science Ltd
Published 2004
Oxford, UK : Blackwell Science Ltd
Published 2004
| ISSN: |
1365-2230
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| Source: |
Blackwell Publishing Journal Backfiles 1879-2005
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| Topics: |
Medicine
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| Notes: |
Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the dorsal aspects of the hands and feet. It is caused by mutations of the RNA-specific adenosine deaminase gene. We report the identification of a Chinese family with a three-generation pedigree of DSH, in whom a novel tyrosine substitution mutation in DSRAD was demonstrated: a heterozygous nucleotide A→G transition at position 2879 in exon 10 of the DSRAD gene was detected.
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| Type of Medium: |
Electronic Resource
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| URL: |