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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2008-4-4
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pubmed:abstractText |
Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominantly inherited dermatosis and characterized by a mixture of hyperpigmented and hypopigmented macules on the back of hands and feet. The DSH locus was mapped to chromosome 1q21 and subsequently pathogenic mutations were identified in the adenosine deaminase acting on RNA1 (ADAR1) gene in 2003.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0923-1811
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
50
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
109-14
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pubmed:meshHeading |
pubmed-meshheading:18243666-Adenosine Deaminase,
pubmed-meshheading:18243666-Asian Continental Ancestry Group,
pubmed-meshheading:18243666-China,
pubmed-meshheading:18243666-Codon, Nonsense,
pubmed-meshheading:18243666-DNA Mutational Analysis,
pubmed-meshheading:18243666-Frameshift Mutation,
pubmed-meshheading:18243666-Genotype,
pubmed-meshheading:18243666-Humans,
pubmed-meshheading:18243666-Mutation,
pubmed-meshheading:18243666-Mutation, Missense,
pubmed-meshheading:18243666-Phenotype,
pubmed-meshheading:18243666-Pigmentation Disorders,
pubmed-meshheading:18243666-Polymerase Chain Reaction,
pubmed-meshheading:18243666-Skin Diseases, Genetic
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pubmed:year |
2008
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pubmed:articleTitle |
Six novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria.
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pubmed:affiliation |
Shandong Provincial Institute of Dermatovenereology, 57 Jiyan Lu, Jinan 250022, Shandong Province, PR China. Zhangfuren@hotmail.com
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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