Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism.

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 ab...

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Autores principales: Arnold, A, Horst, S A, Gardella, T J, Baba, H, Levine, M A, Kronenberg, H M
Formato: Artigo
Lenguaje:Inglês
Publicado: 1990
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC296835/
https://ncbi.nlm.nih.gov/pubmed/2212001
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