Detection of large deletion mutations in the COL4A5 gene of female Alport syndrome patients. (Record no. 18067589)

MARC details
000 -LEADER
fixed length control field 01627 a2200481 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515124703.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200903s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0931-041X
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1007/s00467-008-0878-y
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 Nozu, Kandai
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20090323
245 00 - TITLE STATEMENT
Title Detection of large deletion mutations in the COL4A5 gene of female Alport syndrome patients.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Pediatric nephrology (Berlin, Germany)
Date of publication, distribution, etc. Nov 2008
300 ## - PHYSICAL DESCRIPTION
Extent 2085-90 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article
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 Chromosomes, Human, X
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Collagen Type IV
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 Deletion
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 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 Kidney
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Nephritis, Hereditary
General subdivision genetics
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 RNA, Messenger
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Reverse Transcriptase Polymerase Chain Reaction
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Przybyslaw Krol, Rafal
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ohtsuka, Yasufumi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nakanishi, Koichi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yoshikawa, Norishige
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nozu, Yoshimi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kaito, Hiroshi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kanda, Kyoko
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hashimura, Yuya
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hamasaki, Yuhei
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Iijima, Kazumoto
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Matsuo, Masafumi
773 0# - HOST ITEM ENTRY
Title Pediatric nephrology (Berlin, Germany)
Related parts vol. 23
-- no. 11
-- p. 2085-90
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1007/s00467-008-0878-y">https://doi.org/10.1007/s00467-008-0878-y</a>
Public note Available from publisher's website

No items available.