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7738948
Source:
http://linkedlifedata.com/resource/pubmed/id/7738948
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61
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0015295
,
umls-concept:C0017337
,
umls-concept:C0026882
,
umls-concept:C0029408
,
umls-concept:C0033239
,
umls-concept:C0038015
,
umls-concept:C0241240
,
umls-concept:C0332281
,
umls-concept:C1279930
,
umls-concept:C1413580
pubmed:issue
2
pubmed:dateCreated
1995-6-8
pubmed:abstractText
To define the clinical, pathological and molecular genetic characteristics of a family with mild spondyloepiphyseal dysplasia (SED) and precocious osteoarthritis.
pubmed:grant
http://linkedlifedata.com/resource/pubmed/grant/AR-20618
,
http://linkedlifedata.com/resource/pubmed/grant/AR-40672
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/7501984
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Molecular Probes
,
http://linkedlifedata.com/resource/pubmed/chemical/Procollagen
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0315-162X
pubmed:author
pubmed-author:Bisagni-FaureAA
,
pubmed-author:BleaselJ FJF
,
pubmed-author:HasanM IMI
,
pubmed-author:HolderbaumDD
,
pubmed-author:MenkesC JCJ
,
pubmed-author:MoskowitzR WRW
,
pubmed-author:Vacher-LavenuM CMC
pubmed:issnType
Print
pubmed:volume
22
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
255-61
pubmed:dateRevised
2010-3-24
pubmed:meshHeading
pubmed-meshheading:7738948-Adult
,
pubmed-meshheading:7738948-Alleles
,
pubmed-meshheading:7738948-Base Sequence
,
pubmed-meshheading:7738948-Body Height
,
pubmed-meshheading:7738948-Cartilage, Articular
,
pubmed-meshheading:7738948-Exons
,
pubmed-meshheading:7738948-Female
,
pubmed-meshheading:7738948-Genes
,
pubmed-meshheading:7738948-Humans
,
pubmed-meshheading:7738948-Male
,
pubmed-meshheading:7738948-Middle Aged
,
pubmed-meshheading:7738948-Molecular Probes
,
pubmed-meshheading:7738948-Molecular Sequence Data
,
pubmed-meshheading:7738948-Osteoarthritis
,
pubmed-meshheading:7738948-Osteochondrodysplasias
,
pubmed-meshheading:7738948-Point Mutation
,
pubmed-meshheading:7738948-Procollagen
pubmed:year
1995
pubmed:articleTitle
Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis.
pubmed:affiliation
Division of Rheumatic Diseases, Case Western Reserve University, Cleveland, OH, USA.
pubmed:publicationType
Journal Article
,
Research Support, U.S. Gov't, P.H.S.
,
Case Reports
,
Research Support, Non-U.S. Gov't