Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
1995-12-4
|
| pubmed:abstractText |
Familial hypercholesterolemia is a genetic disorder caused by mutations of the low-density-lipoprotein (LDL) receptor gene. We characterized the structures of LDL receptor mRNA transcripts in the fibroblasts of a homozygous patient carrying a single base substitution (T-->C) at the 5' splice donor site of intron 12 of the LDL receptor gene. We identified three aberrant transcripts as a consequence of intron-12 read-through, exon-12 skipping and utilization of a cryptic splice donor site. Only a point mutation at the 5' splice donor site caused the production of three alternatively spliced products. None of these transcripts produced a functional LDL receptor protein in this patient.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Sep
|
| pubmed:issn |
0014-2956
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
15
|
| pubmed:volume |
232
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
700-5
|
| pubmed:dateRevised |
2007-7-23
|
| pubmed:meshHeading |
pubmed-meshheading:7588706-Alternative Splicing,
pubmed-meshheading:7588706-Amino Acid Sequence,
pubmed-meshheading:7588706-Base Sequence,
pubmed-meshheading:7588706-Child, Preschool,
pubmed-meshheading:7588706-DNA Primers,
pubmed-meshheading:7588706-Exons,
pubmed-meshheading:7588706-Female,
pubmed-meshheading:7588706-Fibroblasts,
pubmed-meshheading:7588706-Homozygote,
pubmed-meshheading:7588706-Humans,
pubmed-meshheading:7588706-Hypercholesterolemia,
pubmed-meshheading:7588706-Introns,
pubmed-meshheading:7588706-Molecular Sequence Data,
pubmed-meshheading:7588706-Point Mutation,
pubmed-meshheading:7588706-Polymerase Chain Reaction,
pubmed-meshheading:7588706-Receptors, LDL,
pubmed-meshheading:7588706-Restriction Mapping,
pubmed-meshheading:7588706-Transcription, Genetic
|
| pubmed:year |
1995
|
| pubmed:articleTitle |
A single point mutation in the splice donor site of the low-density-lipoprotein-receptor gene produces intron read-through, exon-skipped and cryptic-site-utilized transcripts.
|
| pubmed:affiliation |
Department of Etiology and Pathophysiology, National Cardiovascular Center Research Institute, Osaka, Japan.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|