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Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis

Jane Christensen, Charlotte Siggaard, Thomas J. Corydon, Luisa deSanctis, László Kovács, Gary L. Robertson, Niels Gregersen, Søren Rittig

European Journal of Human Genetics · 2003 · 49 citations · 46 references

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46

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis · Human Mutation · 2000 · 1.8K citations · Full text

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Recommendations for a nomenclature system for human gene mutations

Stylianos E. Antonarakis · Human Mutation · 1998 · 939 citations · Full text

Quality control in the secretory pathway: retention of a misfolded viral membrane glycoprotein involves cycling between the ER, intermediate compartment, and Golgi apparatus.

Craig Hammond, Ari Helenius · The Journal of Cell Biology · 1994 · 442 citations · Full text

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The human vasopressin gene is linked to the oxytocin gene and is selectively expressed in a cultured lung cancer cell line.

Edward A. Sausville, D Carney, James F. Battey · Journal of Biological Chemistry · 1985 · 338 citations · Full text

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Diabetes Insipidus

Gary L. Robertson · Endocrinology and Metabolism Clinics of North America · 1995 · 194 citations