Linked Life Data

9852679

Source:http://linkedlifedata.com/resource/pubmed/id/9852679

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1999-1-13
pubmed:abstractText
Schmid metaphyseal chondrodysplasia (SMCD) is one of the most common forms of the osteochondrodysplasias. Mutations or deletions in the COL10A1 gene that encodes type X collagen have been shown to cause this disorder. Most of the gene mutations and deletions are located in the non-collagenous carboxy (C)-terminal (NC1) domain. We describe a novel missense mutation in a patient with SMCD that leads to the substitution of Tyr at codon 597 by Cys in the NC1 domain. Sequence analysis indicated that the proband was heterozygous for the mutation. Her parents were homozygous for the normal sequence, indicating the de-novo occurrence of this mutation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1434-5161
pubmed:author
pubmed:issnType
Print
pubmed:volume
43
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
259-61
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.
pubmed:affiliation
Department of Obstetrics and Gynecology, Hyogo College of Medicine, Japan.
pubmed:publicationType
Journal Article, Case Reports