Article
Two mutations in the insulin receptor gene of a patient with leprechaunism: application to prenatal diagnosis.
The Journal of clinical endocrinology and metabolism - 1 May 1995
Longo N, Langley S D, Griffin L D, Elsas L J
Abstract excerpt
Leprechaunism is an autosomal recessive disorder caused by mutations in the insulin receptor gene and characterized by intrauterine and postnatal growth restriction, abnormal glucose homeostasis, and severe insulin-resistance. Here we report the biochemical and molecular characterization of a mal...
Topics
- Base Sequence
- Blotting, Northern
- Cells, Cultured
- DNA
- Developmental Disabilities
- Endocrine System Diseases
- Fibroblasts
- Humans
- Infant, Newborn
- Insulin
- Male
- Molecular Sequence Data
- Mutation
- Prenatal Diagnosis
- RNA, Messenger
- Receptor, Insulin