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17031297
Source:
http://linkedlifedata.com/resource/pubmed/id/17031297
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0017337
,
umls-concept:C0026882
,
umls-concept:C0205314
,
umls-concept:C0242610
,
umls-concept:C0271091
,
umls-concept:C0424972
,
umls-concept:C0679622
,
umls-concept:C1419764
pubmed:issue
8
pubmed:dateCreated
2006-10-10
pubmed:abstractText
To describe a novel point mutation in the initiation codon of the XLRS1 gene in a large family and the clinical features of males affected with X-linked juvenile retino-schisis.
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/8309919
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Codon, Initiator
,
http://linkedlifedata.com/resource/pubmed/chemical/Eye Proteins
,
http://linkedlifedata.com/resource/pubmed/chemical/RS1 protein, human
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0275-004X
pubmed:author
pubmed-author:DonosoLarry ALA
,
pubmed-author:FrostArcileeA
,
pubmed-author:KimDavid YDY
,
pubmed-author:NeelyKimberly AKA
,
pubmed-author:SassaniJoseph WJW
,
pubmed-author:TantriAvinashA
,
pubmed-author:VrabecTamara RTR
pubmed:issnType
Print
pubmed:volume
26
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
940-6
pubmed:dateRevised
2006-12-15
pubmed:meshHeading
pubmed-meshheading:17031297-Codon, Initiator
,
pubmed-meshheading:17031297-DNA Mutational Analysis
,
pubmed-meshheading:17031297-Eye Proteins
,
pubmed-meshheading:17031297-Follow-Up Studies
,
pubmed-meshheading:17031297-Humans
,
pubmed-meshheading:17031297-Male
,
pubmed-meshheading:17031297-Middle Aged
,
pubmed-meshheading:17031297-Pedigree
,
pubmed-meshheading:17031297-Point Mutation
,
pubmed-meshheading:17031297-Retinoschisis
,
pubmed-meshheading:17031297-Tomography, Optical Coherence
,
pubmed-meshheading:17031297-Visual Acuity
pubmed:year
2006
pubmed:articleTitle
X-linked retinoschisis: novel mutation in the initiation codon of the XLRS1 gene in a large family.
pubmed:affiliation
Henry and Corinne Bower Laboratory, Wills Eye Hospital and the Eye Research Institute, 211 South 9th Street, Room 402, Philadelphia, PA 19107, USA.
pubmed:publicationType
Journal Article
,
Case Reports
,
Research Support, Non-U.S. Gov't