Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. (Record no. 11604502)

MARC details
000 -LEADER
fixed length control field 02126 a2200697 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514014833.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200112s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1061-4036
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1038/ng752
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 Birkenhäger, R
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20011207
245 00 - TITLE STATEMENT
Title Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Nature genetics
Date of publication, distribution, etc. Nov 2001
300 ## - PHYSICAL DESCRIPTION
Extent 310-4 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 Animals
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Bartter Syndrome
General subdivision complications
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chloride Channels
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, Pair 1
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cloning, Molecular
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 Exons
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 Gene Expression Profiling
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Haplotypes
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hearing Loss, Sensorineural
General subdivision complications
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 In Situ Hybridization
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Kidney
General subdivision metabolism
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 Membrane Proteins
General subdivision genetics
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
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Physical Chromosome Mapping
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Polymorphism, Single-Stranded Conformational
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Prenatal Diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element RNA, Messenger
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Renal Insufficiency
General subdivision complications
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Otto, E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schürmann, M J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vollmer, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ruf, E M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Maier-Lutz, I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Beekmann, F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fekete, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Omran, H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Feldmann, D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Milford, D V
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jeck, N
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Konrad, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Landau, D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Knoers, N V
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Antignac, C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sudbrak, R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kispert, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hildebrandt, F
773 0# - HOST ITEM ENTRY
Title Nature genetics
Related parts vol. 29
-- no. 3
-- p. 310-4
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1038/ng752">https://doi.org/10.1038/ng752</a>
Public note Available from publisher's website

No items available.