Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis-Reference-Cited by-同舟云学术

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

Published:2003-12-03 Issue:1 Volume:12 Page:44-51
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Christensen Jane H,Siggaard Charlotte,Corydon Thomas J,deSanctis Luisa,Kovacs Laszlo,Robertson Gary L,Gregersen Niels,Rittig Søren

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201086.pdf

Reference57 articles.

1. Hansen LK, Rittig S, Robertson GL : Genetic basis of familial neurohypophyseal diabetes insipidus. Trends Endocrinol Metab 1997; 8: 363–372.

2. Robertson GL : Diabetes insipidus. Endocrinol Metab Clin North Am 1995; 24: 549–572.

3. McLeod JF, Kovacs L, Gaskill MB, Rittig S, Bradley GS, Robertson GL : Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation (see comments). J Clin Endocrinol Metab 1993; 77: 599A–599G.

4. Mahoney CP, Weinberger E, Bryant C, Ito M, Jameson JL, Ito M : Effects of aging on vasopressin production in a kindred with autosomal dominant neurohypophyseal diabetes insipidus due to the DeltaE47 neurophysin mutation. J Clin Endocrinol Metab 2002; 87: 870–876.

5. Green JR, Buchan GC, Alvord ECJ, Swanson AG : Hereditary and idiopathic types of diabetes insipidus. Brain 1967; 90: 707–714.

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