Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. (Record no. 23707114)

MARC details
000 -LEADER
fixed length control field 02133 a2200589 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516204820.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201411s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1533-3450
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1681/ASN.2013101103
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 Kohl, Stefan
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20141121
245 00 - TITLE STATEMENT
Title Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of the American Society of Nephrology : JASN
Date of publication, distribution, etc. Sep 2014
300 ## - PHYSICAL DESCRIPTION
Extent 1917-22 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 Animals
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Carrier Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Congenital Abnormalities
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Disease Models, Animal
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Extracellular Matrix Proteins
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 Fraser Syndrome
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genes, Recessive
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 Integrin alpha Chains
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Intercellular Signaling Peptides and Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Kidney
General subdivision abnormalities
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Kidney Diseases
General subdivision congenital
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 Mice, Mutant Strains
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 Nerve Tissue Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptors, Interleukin
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Urinary Tract
General subdivision abnormalities
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Urogenital Abnormalities
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Vesico-Ureteral Reflux
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hwang, Daw-Yang
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dworschak, Gabriel C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hilger, Alina C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Saisawat, Pawaree
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vivante, Asaf
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stajic, Natasa
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bogdanovic, Radovan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Reutter, Heiko M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kehinde, Elijah O
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tasic, Velibor
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hildebrandt, Friedhelm
773 0# - HOST ITEM ENTRY
Title Journal of the American Society of Nephrology : JASN
Related parts vol. 25
-- no. 9
-- p. 1917-22
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1681/ASN.2013101103">https://doi.org/10.1681/ASN.2013101103</a>
Public note Available from publisher's website

No items available.