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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2004-5-26
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pubmed:abstractText |
The autosomal dominant form of retinitis pigmentosa (ADRP) can be caused by mutations in 13 genes and a further locus for which the gene remains to be identified. This study was intended to identify mutations in a large Chinese pedigree with ADRP.
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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 |
1090-0535
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pubmed:author |
pubmed-author:DengHanxiangH,
pubmed-author:DengHaoH,
pubmed-author:HuZhengmaoZ,
pubmed-author:JiangDeyongD,
pubmed-author:LiuXiaopingX,
pubmed-author:LiuZhengZ,
pubmed-author:PanQianQ,
pubmed-author:ShiS MSM,
pubmed-author:XiXinghuaX,
pubmed-author:XiaJiahuiJ,
pubmed-author:ZhengDuoD
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pubmed:issnType |
Electronic
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pubmed:day |
20
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pubmed:volume |
10
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
361-5
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:15162096-Asian Continental Ancestry Group,
pubmed-meshheading:15162096-Chromosomes, Human, Pair 19,
pubmed-meshheading:15162096-Eye Proteins,
pubmed-meshheading:15162096-Female,
pubmed-meshheading:15162096-Frameshift Mutation,
pubmed-meshheading:15162096-Genes, Dominant,
pubmed-meshheading:15162096-Genetic Linkage,
pubmed-meshheading:15162096-Humans,
pubmed-meshheading:15162096-Male,
pubmed-meshheading:15162096-Pedigree,
pubmed-meshheading:15162096-RNA, Messenger,
pubmed-meshheading:15162096-RNA Splice Sites,
pubmed-meshheading:15162096-RNA Splicing,
pubmed-meshheading:15162096-Retinitis Pigmentosa,
pubmed-meshheading:15162096-Reverse Transcriptase Polymerase Chain Reaction
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pubmed:year |
2004
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pubmed:articleTitle |
A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
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pubmed:affiliation |
National Laboratory of Medical Genetics of China, The Second Xiangya Hospital, Central South University, Changsha, People's Republic of China. nlmglcy@xysm.net
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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