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14986011
Source:
http://linkedlifedata.com/resource/pubmed/id/14986011
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0015576
,
umls-concept:C0017337
,
umls-concept:C0205314
,
umls-concept:C0271091
,
umls-concept:C0679622
,
umls-concept:C1419764
,
umls-concept:C1442161
,
umls-concept:C1556094
pubmed:issue
7
pubmed:dateCreated
2004-8-4
pubmed:abstractText
To present the clinical features of two brothers with molecularly confirmed X-linked juvenile retinoschisis (xlRS) but with non-characteristic electrophysiological findings.
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/8205248
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Eye Proteins
,
http://linkedlifedata.com/resource/pubmed/chemical/RS1 protein, human
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0721-832X
pubmed:author
pubmed-author:InoueMakotoM
,
pubmed-author:IshidaSusumuS
,
pubmed-author:MashimaYukihikoY
,
pubmed-author:OguchiYoshihisaY
,
pubmed-author:OhdeHisaoH
,
pubmed-author:ShinodaKeiK
pubmed:issnType
Print
pubmed:volume
242
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
561-5
pubmed:dateRevised
2006-9-23
pubmed:meshHeading
pubmed-meshheading:14986011-Adult
,
pubmed-meshheading:14986011-Base Sequence
,
pubmed-meshheading:14986011-DNA Mutational Analysis
,
pubmed-meshheading:14986011-Electroretinography
,
pubmed-meshheading:14986011-Exons
,
pubmed-meshheading:14986011-Eye Proteins
,
pubmed-meshheading:14986011-Frameshift Mutation
,
pubmed-meshheading:14986011-Humans
,
pubmed-meshheading:14986011-Japan
,
pubmed-meshheading:14986011-Male
,
pubmed-meshheading:14986011-Molecular Sequence Data
,
pubmed-meshheading:14986011-Polymerase Chain Reaction
,
pubmed-meshheading:14986011-Retina
,
pubmed-meshheading:14986011-Retinoschisis
,
pubmed-meshheading:14986011-Sequence Deletion
,
pubmed-meshheading:14986011-Siblings
pubmed:year
2004
pubmed:articleTitle
Novel 473-bp deletion in XLRS1 gene in a Japanese family with X-linked juvenile retinoschisis.
pubmed:affiliation
Department of Ophthalmology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku 160-8582, Tokyo, Japan. shinodak@uni.de
pubmed:publicationType
Journal Article
,
Case Reports