Linked Life Data

1606711

Source:http://linkedlifedata.com/resource/pubmed/id/1606711

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1992-7-23
pubmed:abstractText
A 23-nucleotide tandem duplication (GGACCTTGAAAGTACTC-GGGACC) was found within exon 3 of the beta-galactosidase gene in a patient with infantile-form GM1-gangliosidosis, which generated a premature stop codon after translation of 36 amino acids. Homologous sequences at the area of duplication suggested that the mutation resulted from an unequal crossover. A single base substitution 316Trp----Cys was found in the other allele. Family study showed that the duplication was transmitted from his father and the base substitution from his mother.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
41
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
235-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1992
pubmed:articleTitle
GM1-gangliosidosis: tandem duplication within exon 3 of beta-galactosidase gene in an infantile patient.
pubmed:affiliation
Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't