Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus. (Record no. 11459761)

MARC details
000 -LEADER
fixed length control field 02017 a2200661 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514010226.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200110s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0002-9297
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1086/323643
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 Kuwahara, M
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20011018
245 00 - TITLE STATEMENT
Title Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of human genetics
Date of publication, distribution, etc. Oct 2001
300 ## - PHYSICAL DESCRIPTION
Extent 738-48 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Amino Acid Sequence
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
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Aquaporin 6
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Aquaporins
General subdivision chemistry
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 Blotting, Western
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cell Membrane
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cell Membrane Permeability
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child, Preschool
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Mutational Analysis
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 Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genes, Dominant
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 Japan
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 Molecular Sequence Data
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Oocytes
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protein Structure, Quaternary
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Saccharomyces cerevisiae
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Xenopus laevis
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Iwai, K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ooeda, T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Igarashi, T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ogawa, E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Katsushima, Y
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shinbo, I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Uchida, S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Terada, Y
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Arthus, M F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lonergan, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fujiwara, T M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bichet, D G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Marumo, F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sasaki, S
773 0# - HOST ITEM ENTRY
Title American journal of human genetics
Related parts vol. 69
-- no. 4
-- p. 738-48
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1086/323643">https://doi.org/10.1086/323643</a>
Public note Available from publisher's website

No items available.