Linked Life Data

6784662

Source:http://linkedlifedata.com/resource/pubmed/id/6784662

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1981-6-25
pubmed:abstractText
Infantile, juvenile, and adult forms of GM1 gangliosidosis have been well characterized. Certain genetic and biochemical studies have suggested that the phenotypic variation found in GM1 gangliosidosis results from different allelic mutations affecting the GM1 ganglioside beta-galactosidase locus and that different combinations of these mutations accounts for the clinical heterogeneity of this illness. A family in which both the infantile and juvenile forms of GM1 gangliosidosis occurred, the children sharing a common mutation of their acid beta-galactosidase activity, supports the allelic nature of these different clinical forms of the disease. From the observations made in this unique family, additional phenotypes of GM1 gangliosidosis might be anticipated.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0364-5134
pubmed:author
pubmed:issnType
Print
pubmed:volume
9
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
225-31
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:year
1981
pubmed:articleTitle
GM1 gangliosidosis: phenotypic variation in a single family.
pubmed:publicationType
Journal Article