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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
7
|
| pubmed:dateCreated |
1996-1-31
|
| pubmed:abstractText |
We report on the prenatal diagnosis of a fetus at risk of leprechaunism. We had previously determined the nature of the causative mutation in the insulin receptor gene in this family. The mutation removes a restriction site for the enzyme Mbo II. Genomic DNA was extracted from a chorionic villus sample and the 3' half of exon 2 was amplified by the polymerase chain reaction (PCR) followed by restriction digest. Using this method, we correctly predicted an unaffected child.
|
| pubmed:grant | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jul
|
| pubmed:issn |
0197-3851
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
15
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
669-71
|
| pubmed:dateRevised |
2009-11-19
|
| pubmed:meshHeading |
pubmed-meshheading:8532629-Chorionic Villi,
pubmed-meshheading:8532629-DNA,
pubmed-meshheading:8532629-Exons,
pubmed-meshheading:8532629-Female,
pubmed-meshheading:8532629-Growth Disorders,
pubmed-meshheading:8532629-Humans,
pubmed-meshheading:8532629-Male,
pubmed-meshheading:8532629-Mutation,
pubmed-meshheading:8532629-Pedigree,
pubmed-meshheading:8532629-Polymerase Chain Reaction,
pubmed-meshheading:8532629-Pregnancy,
pubmed-meshheading:8532629-Prenatal Diagnosis,
pubmed-meshheading:8532629-Receptor, Insulin
|
| pubmed:year |
1995
|
| pubmed:articleTitle |
Prenatal analysis of the insulin receptor gene in a family with leprechaunism.
|
| pubmed:affiliation |
Department of Medicine, University of Cambridge, Addenbrookes Hospital, U.K.
|
| pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|