Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. (Record no. 23453599)

MARC details
000 -LEADER
fixed length control field 01704 a2200517 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516192036.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201502s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1523-1755
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1038/ki.2013.508
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 Hwang, Daw-Yang
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20150209
245 00 - TITLE STATEMENT
Title Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Kidney international
Date of publication, distribution, etc. Jun 2014
300 ## - PHYSICAL DESCRIPTION
Extent 1429-33 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 DNA Mutational Analysis
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
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Predisposition to Disease
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Testing
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Heredity
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Heterozygote
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 Mutation
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 Phenotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Predictive Value of Tests
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Risk Factors
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 Dworschak, Gabriel C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kohl, Stefan
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 Hilger, Alina C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Reutter, Heiko M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Soliman, Neveen A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bogdanovic, Radovan
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 Kidney international
Related parts vol. 85
-- no. 6
-- p. 1429-33
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1038/ki.2013.508">https://doi.org/10.1038/ki.2013.508</a>
Public note Available from publisher's website

No items available.