Article
Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at position 65 in the proinsulin molecule: identification of the mutation by direct sequencing of genomic deoxyribonucleic acid amplified by polymerase chain reaction.
The Journal of clinical endocrinology and metabolism - 1 Jul 1990
Barbetti F, Raben N, Kadowaki T, Cama A, Accili D, Gabbay K H, Merenich J A, Taylor S I, Roth J
Abstract excerpt
Mutations in the insulin gene can impair the bioactivity of the insulin molecule. Previously, two classes of mutations have been identified: 1) those that impair posttranslational processing of proinsulin to insulin, and 2) those that alter the structure of the insulin molecule, thereby reducing the affinity of the molecule for the insulin receptor. We have investigated two apparently unrelated patients, both of...
Topics
- Alleles
- Amino Acid Sequence
- Arginine
- Base Sequence
- Blood Glucose
- Codon
- DNA
- Exons
- Gene Amplification
- Genes