Linked Life Data

8291023

Source:http://linkedlifedata.com/resource/pubmed/id/8291023

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1994-2-24
pubmed:abstractText
Chediak-Higashi Syndrome is an autosomal recessive disorder, characterized by the presence of large intracellular granules, particularly lysosomes and melanosomes. While the Chediak-Higashi Syndrome is a rare disorder in humans, phenotypically similar syndromes are found in other species. Fusion of normal fibroblasts to Chediak fibroblasts complements the Chediak disorder, restoring normal lysosome size and distribution. Fusion of wild-type with Chediak fibroblasts from human, mouse, or mink demonstrates that wild-type fibroblasts can complement any of the Chediak fibroblasts. Complementation was not observed in interspecific hybrids between Chediak fibroblasts from these species, suggesting that the same gene product is defective in humans, mice, and mink.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0740-7750
pubmed:author
pubmed:issnType
Print
pubmed:volume
19
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
459-68
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Complementation analysis of Chediak-Higashi syndrome: the same gene may be responsible for the defect in all patients and species.
pubmed:affiliation
Department of Pathology, University of Utah College of Medicine, Salt Lake City 84132.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.