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10682987
Source:
http://linkedlifedata.com/resource/pubmed/id/10682987
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0205314
,
umls-concept:C0205359
,
umls-concept:C0205422
,
umls-concept:C0339510
,
umls-concept:C0599155
,
umls-concept:C0679622
,
umls-concept:C1524003
,
umls-concept:C1533148
,
umls-concept:C1826421
pubmed:issue
2
pubmed:dateCreated
2000-2-23
pubmed:abstractText
To report the molecular characterization of a novel VMD2 mutation causing a Best macular dystrophy sporadic case.
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/0370500
pubmed:citationSubset
AIM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/BEST1 protein, human
,
http://linkedlifedata.com/resource/pubmed/chemical/Chloride Channels
,
http://linkedlifedata.com/resource/pubmed/chemical/Eye Proteins
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0002-9394
pubmed:author
pubmed-author:AngiusAA
,
pubmed-author:OrzalesiNN
,
pubmed-author:PalombaGG
,
pubmed-author:PierrottetC OCO
,
pubmed-author:PirastuMM
,
pubmed-author:RozzoCC
pubmed:issnType
Print
pubmed:volume
129
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
260-2
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed-meshheading:10682987-Amino Acid Substitution
,
pubmed-meshheading:10682987-Child, Preschool
,
pubmed-meshheading:10682987-Chloride Channels
,
pubmed-meshheading:10682987-Eye Proteins
,
pubmed-meshheading:10682987-Female
,
pubmed-meshheading:10682987-Humans
,
pubmed-meshheading:10682987-Macular Degeneration
,
pubmed-meshheading:10682987-Mutation, Missense
,
pubmed-meshheading:10682987-Point Mutation
,
pubmed-meshheading:10682987-Polymerase Chain Reaction
,
pubmed-meshheading:10682987-Polymorphism, Single-Stranded Conformational
,
pubmed-meshheading:10682987-Sequence Analysis, DNA
,
pubmed-meshheading:10682987-Visual Acuity
pubmed:year
2000
pubmed:articleTitle
A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case.
pubmed:affiliation
Istituto di Genetica Molecolare, CNR, Alghero, Italy.
pubmed:publicationType
Journal Article
,
Case Reports
,
Research Support, Non-U.S. Gov't