Characterization of two novel missense mutations in the AQP2 gene causing nephrogenic diabetes insipidus. (Record no. 16759824)

MARC details
000 -LEADER
fixed length control field 01516 a2200457 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515052348.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200702s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1660-2137
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1159/000098136
Source of number or code doi
040 ## - CATALOGING SOURCE
Original cataloging agency NLM
Language of cataloging eng
Transcribing agency NLM
100 1# - MAIN ENTRY--PERSONAL NAME
Personal name Iolascon, Achille
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20070228
245 00 - TITLE STATEMENT
Title Characterization of two novel missense mutations in the AQP2 gene causing nephrogenic diabetes insipidus.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Nephron. Physiology
Date of publication, distribution, etc. 2007
300 ## - PHYSICAL DESCRIPTION
Extent p33-41 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Animals
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Aquaporin 2
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Base Sequence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Diabetes Insipidus, Nephrogenic
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Predisposition to Disease
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Infant
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mice
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Molecular Sequence Data
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation, Missense
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Aglio, Veruska
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tamma, Grazia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name D'Apolito, Maria
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Addabbo, Francesco
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Procino, Giuseppe
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Simonetti, Maria Carmela
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Montini, Giovanni
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gesualdo, Loreto
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Debler, Erik W
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Svelto, Maria
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Valenti, Giovanna
773 0# - HOST ITEM ENTRY
Title Nephron. Physiology
Related parts vol. 105
-- no. 3
-- p. p33-41
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1159/000098136">https://doi.org/10.1159/000098136</a>
Public note Available from publisher's website

No items available.