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Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus.

A transition of G to A at nucleotide position 279 in exon 1 of the vasopressin gene has been identified in patients with familial central diabetes insipidus. The mutation predicts an amino acid substitution of Thr (ACG) for Ala (GCG) at the COOH terminus of the signal peptide in preprovasopression (...

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Autors principals: Ito, M, Oiso, Y, Murase, T, Kondo, K, Saito, H, Chinzei, T, Racchi, M, Lively, M O
Format: Artigo
Idioma:Inglês
Publicat: 1993
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC443319/
https://ncbi.nlm.nih.gov/pubmed/8514868
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