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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 |
2007-1-25
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pubmed:abstractText |
The 208delG (c.72delG, p.Thr25GlnfsX120) mutation in the FSCN2 gene was reported to cause autosomal dominant retinitis pigmentosa (ADRP) and autosomal dominant macular degeneration (ADMD). The purpose of this study was to detect the 208delG mutation in Chinese individuals, with or without hereditary retinal degeneration.
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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 |
Feb
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pubmed:issn |
0146-0404
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
48
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
530-3
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pubmed:meshHeading |
pubmed-meshheading:17251446-Actins,
pubmed-meshheading:17251446-Adolescent,
pubmed-meshheading:17251446-Adult,
pubmed-meshheading:17251446-Aged,
pubmed-meshheading:17251446-Asian Continental Ancestry Group,
pubmed-meshheading:17251446-Carrier Proteins,
pubmed-meshheading:17251446-Child,
pubmed-meshheading:17251446-China,
pubmed-meshheading:17251446-Female,
pubmed-meshheading:17251446-Gene Deletion,
pubmed-meshheading:17251446-Humans,
pubmed-meshheading:17251446-Male,
pubmed-meshheading:17251446-Microfilament Proteins,
pubmed-meshheading:17251446-Middle Aged,
pubmed-meshheading:17251446-Mutation,
pubmed-meshheading:17251446-Pedigree,
pubmed-meshheading:17251446-Polymerase Chain Reaction,
pubmed-meshheading:17251446-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:17251446-Retinal Degeneration
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pubmed:year |
2007
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pubmed:articleTitle |
The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals.
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pubmed:affiliation |
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China. qingjiongzhang@yahoo.com
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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