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- Title
Prenatal analysis of the insulin receptor gene in a family with leprechaunism.
- Authors
Krook, A.; Bell, J. A.; Robertson, M. E.; Brueton, L.; O'Rahilly, S.
- Abstract
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.
- Publication
Prenatal Diagnosis, 1995, Vol 15, Issue 7, p669
- ISSN
0197-3851
- Publication type
journal article
- DOI
10.1002/pd.1970150714