Linked Life Data

20819661

Source:http://linkedlifedata.com/resource/pubmed/id/20819661

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
16
pubmed:dateCreated
2010-9-7
pubmed:abstractText
Pseudoachondroplasia (PSACH) is an autosomal-dominant osteochondrodysplasia due to mutations in the gene encoding cartilage oligomeric matrix protein (COMP). Clinical diagnosis of PSACH is based primarily on family history, physical examination, and radiographic evaluation. There is evidence that decreased serum COMP concentration may serve as a diagnostic marker in PSACH. Here, we investigated the role of this gene and the serum COMP concentration in Chinese patients with PSACH.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0366-6999
pubmed:author
pubmed:issnType
Print
pubmed:volume
123
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
2181-4
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Genetic analysis and serum level of cartilage oligomeric matrix protein in patients with pseudoachondroplasia.
pubmed:affiliation
Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Peking Union Medical College Hospital, Department of Rheumatology, WHO Collaborating Centre for Community Control of Hereditary Diseases, Beijing 100730, China.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't