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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
AVP
gene.
Christensen JH, Rittig S. Familial neurohypophyseal diabetes insipidus--an update. Semin Nephrol. 2006 May;26(3):209-23. Review.
PubMed citation
Christensen JH, Siggaard C, Corydon TJ, deSanctis L, Kovacs L, Robertson GL, Gregersen N, Rittig S. Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis. Eur J Hum Genet. 2004 Jan;12(1):44-51.
PubMed citation
Entrez
Gene
Grant FD, Ahmadi A, Hosley CM, Majzoub JA. Two novel mutations of the vasopressin gene associated with familial diabetes insipidus and identification of an asymptomatic carrier infant. J Clin Endocrinol Metab. 1998 Nov;83(11):3958-64.
PubMed citation
Ito M, Mori Y, Oiso Y, Saito H. A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus. J Clin Invest. 1991 Feb;87(2):725-8.
PubMed citation
Nagasaki H, Ito M, Yuasa H, Saito H, Fukase M, Hamada K, Ishikawa E, Katakami H, Oiso Y. Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus. J Clin Endocrinol Metab. 1995 Apr;80(4):1352-6.
PubMed citation
Repaske DR, Summar ML, Krishnamani MR, Gültekin EK, Arriazu MC, Roubicek ME, Blanco M, Isaac GB, Phillips JA 3rd. Recurrent mutations in the vasopressin-neurophysin II gene cause autosomal dominant neurohypophyseal diabetes insipidus. J Clin Endocrinol Metab. 1996 Jun;81(6):2328-34.
PubMed citation
Rittig S, Robertson GL, Siggaard C, Kovács L, Gregersen N, Nyborg J, Pedersen EB. Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus. Am J Hum Genet. 1996 Jan;58(1):107-17.
PubMed citation
Siggaard C, Rittig S, Corydon TJ, Andreasen PH, Jensen TG, Andresen BS, Robertson GL, Gregersen N, Bolund L, Pedersen EB. Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation. J Clin Endocrinol Metab. 1999 Aug;84(8):2933-41.
PubMed citation
Reviewed: April 2010
Published: June 17, 2013