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 abnorma...

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Publié dans:	J Clin Invest
Auteurs principaux:	Arnold, A, Horst, S A, Gardella, T J, Baba, H, Levine, M A, Kronenberg, H M
Format:	Artigo
Langue:	Inglês
Publié:	American Society for Clinical Investigation 1990
Sujets:	Research Article
Accès en ligne:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC296835/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2212001/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114811
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