A Missense Mutation Encoding Cys67 → Gly in Neurophysin II Is Associated with Early Onset Autosomal Dominant Neurohypophyseal Diabetes Insipidus-Reference-Cited by-同舟云学术

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A Missense Mutation Encoding Cys67 → Gly in Neurophysin II Is Associated with Early Onset Autosomal Dominant Neurohypophyseal Diabetes Insipidus

Published:2001-01 Issue:1 Volume:72 Page:39-44
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

DiMeglio Linda A.,Gagliardi Priscila C.,Browning James E.,Quigley Charmian A.,Repaske David R.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference25 articles.

1. Radioimmunoassay of vasopressin in familial central diabetes insipidus;Kaplowitz;J Pediatr,1982

2. Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation;McLeod;J Clin Endocrinol Metab,1993

3. Editorial: Molecular genetics of familial central diabetes insipidus;Miller;J Clin Endocrinol Metab,1993

4. Molecular analysis of autosomal dominant neurohypophyseal diabetes insipidus;Repaske;J Clin Endocrinol Metab,1990

5. The human vasopressin gene is linked to the oxytocin gene and is selectively expressed in a cultured lung cancer cell line;Sausville;J Biol Chem,1985

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1. Patologías del receptor V2 de la vasopresina: diabetes insípida nefrógena congénita y síndrome de antidiuresis inapropiada nefrógena;EMC - Pediatría;2024-09

2. Familial neurohypophyseal diabetes insipidus: clinical, genetic and functional studies of novel mutations in the arginine vasopressin gene;Pituitary;2021-01-12

3. Central Diabetes Insipidus Caused by Arginine Vasopressin Gene Mutation: Report of a Novel Mutation and Review of Literature;Hormone and Metabolic Research;2020-07-06

4. Genetics of Diabetes Insipidus;Endocrinology and Metabolism Clinics of North America;2017-06

5. Patologías del receptor V2 de la vasopresina: diabetes insípida nefrógena congénita y síndrome nefrógeno de antidiuresis inapropiada;EMC - Pediatría;2016-12

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