Amplification and analysis of promoter region of insulin receptor gene in a patient with leprechaunism associated with severe insulin resistance

A patient with leprechaunism associated with severe insulin resistance was studied to identify the molecular and genetic basis for insulin resistance. Insulin binding and surface labeling of transformed lymphocytes prepared from the patient showed a significantly decreased insulin receptor number on...

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Veröffentlicht in:	Metabolism, clinical and experimental clinical and experimental, 1995-04, Vol.44 (4), p.430-437
Hauptverfasser:	Haruta, Tetsuro, Imamura, Takeshi, Iwanishi, Masanori, Egawa, Katsuya, Goji, Katsum, Kobayashi, Masashi
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Base Sequence Biological and medical sciences Blotting, Southern Developmental Disabilities - genetics Developmental Disabilities - physiopathology Diabetes. Impaired glucose tolerance Endocrine pancreas. Apud cells (diseases) Endocrine System Diseases - genetics Endocrine System Diseases - physiopathology Endocrinopathies Etiopathogenesis. Screening. Investigations. Target tissue resistance Female Humans Infant Insulin Resistance Lymphocyte Activation Lymphocytes - physiology Medical sciences Molecular Probes - genetics Molecular Sequence Data Polymerase Chain Reaction Promoter Regions, Genetic Receptor, Insulin - genetics RNA, Messenger - metabolism Syndrome
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