Article
Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism.
The Journal of clinical investigation - 1 Oct 1990
Arnold A, Horst S A, Gardella T J, Baba H, Levine M A, Kronenberg H M
Abstract excerpt
Preproparathyroid hormone (preproPTH) gene mutation has been proposed as a cause of familial isolated hypoparathyroidism (FIH). We cloned the preproPTH alleles of a patient with autosomal dominant FIH and sequenced the coding regions, 5' flanking regions, and splice junctions. The putatively abnormal (based on previous linkage studies) allele differed from the other allele's normal sequence at only one...
Topics
- Amino Acid Sequence
- Base Sequence
- Female
- Humans
- Hypoparathyroidism
- Male
- Molecular Sequence Data
- Mutation
- Parathyroid Hormone
- Protein Precursors
- Protein Sorting Signals