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A homozygous kinase-defective mutation in the insulin receptor gene in a patient with leprechaunism

✍ Scribed by Y. Takahashi; H. Kadowaki; K. Momomura; Y. Fukushima; T. Orban; T. Okai; Y. Taketani; Y. Akanuma; Y. Yazaki; T. Kadowaki

Publisher
Springer
Year
1997
Tongue
English
Weight
212 KB
Volume
40
Category
Article
ISSN
0012-186X

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πŸ“œ SIMILAR VOLUMES

Homozygosity for a null allele of the in
Homozygosity for a null allele of the insulin receptor gene in a patient with leprechaunism
✍ Jennifer Hone; Domenico Accili; Helen Psiachou; Jamie Alghband-Zadeh; Sally Mitt πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 600 KB

## Communicated by Urn Frrmcke Mutations in the insulin receptor gene can cause genetic syndromes associated with extreme insulin resistance. We have investigated a patient with leprechaunism (IeprechaudQatar-I) born of a consanguineous marriage. Postnatally, the proband had episodes of severe hyp