Loss-of-function variants in myocardin cause congenital megabladder in humans and mice. (Record no. 30104619)

MARC details
000 -LEADER
fixed length control field 02016 a2200625 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518061007.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 202006s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1558-8238
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1172/JCI128545
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 Houweling, Arjan C
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20200612
245 00 - TITLE STATEMENT
Title Loss-of-function variants in myocardin cause congenital megabladder in humans and mice.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. The Journal of clinical investigation
Date of publication, distribution, etc. 12 2019
300 ## - PHYSICAL DESCRIPTION
Extent 5374-5380 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adult
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 Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Variation
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 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 Muscle, Smooth
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Nuclear Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Trans-Activators
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Urinary Bladder
General subdivision abnormalities
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Beaman, Glenda M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Postma, Alex V
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gainous, T Blair
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lichtenbelt, Klaske D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brancati, Francesco
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lopes, Filipa M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van der Made, Ingeborg
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Polstra, Abeltje M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Robinson, Michael L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wright, Kevin D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ellingford, Jamie M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jackson, Ashley R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Overwater, Eline
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Genesio, Rita
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Romano, Silvio
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Camerota, Letizia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name D'Angelo, Emanuela
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Meijers-Heijboer, Elizabeth J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Christoffels, Vincent M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name McHugh, Kirk M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Black, Brian L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Newman, William G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Woolf, Adrian S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Creemers, Esther E
773 0# - HOST ITEM ENTRY
Title The Journal of clinical investigation
Related parts vol. 129
-- no. 12
-- p. 5374-5380
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1172/JCI128545">https://doi.org/10.1172/JCI128545</a>
Public note Available from publisher's website

No items available.