|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0001779,
umls-concept:C0012634,
umls-concept:C0015576,
umls-concept:C0015813,
umls-concept:C0026882,
umls-concept:C0029410,
umls-concept:C0205171,
umls-concept:C0205252,
umls-concept:C0221247,
umls-concept:C0449450,
umls-concept:C1413580
|
|
pubmed:issue |
6
|
|
pubmed:dateCreated |
2008-6-19
|
|
pubmed:abstractText |
To identify the genetic abnormality responsible for osteoarthritis (OA), avascular necrosis (AVN) of the femoral head, and Legg-Calvé-Perthes disease in a single family, and to determine factors responsible for the distinct phenotypes manifested by different family members.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jun
|
|
pubmed:issn |
0004-3591
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
58
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
1701-6
|
|
pubmed:dateRevised |
2011-11-17
|
|
pubmed:meshHeading |
pubmed-meshheading:18512791-Adolescent,
pubmed-meshheading:18512791-Adult,
pubmed-meshheading:18512791-Aged,
pubmed-meshheading:18512791-Case-Control Studies,
pubmed-meshheading:18512791-Child,
pubmed-meshheading:18512791-Cohort Studies,
pubmed-meshheading:18512791-Collagen Type II,
pubmed-meshheading:18512791-Epiphyses,
pubmed-meshheading:18512791-Female,
pubmed-meshheading:18512791-Femur Head Necrosis,
pubmed-meshheading:18512791-Humans,
pubmed-meshheading:18512791-Legg-Calve-Perthes Disease,
pubmed-meshheading:18512791-Male,
pubmed-meshheading:18512791-Middle Aged,
pubmed-meshheading:18512791-Osteoarthritis, Hip,
pubmed-meshheading:18512791-Pedigree,
pubmed-meshheading:18512791-Polymorphism, Single Nucleotide
|
|
pubmed:year |
2008
|
|
pubmed:articleTitle |
Age at onset-dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg-Calvé-Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation of COL2A1.
|
|
pubmed:affiliation |
Second Affiliated Hospital and Center for Genome Research, Sun Yat-Sen University, Guangzhou, China.
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
