De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome. (Record no. 16083148)

MARC details
000 -LEADER
fixed length control field 01794 a2200541 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515014607.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200608s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1098-1004
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/humu.9408
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 Heinen, Stefan
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20060802
245 00 - TITLE STATEMENT
Title De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human mutation
Date of publication, distribution, etc. Mar 2006
300 ## - PHYSICAL DESCRIPTION
Extent 292-3 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 Base Sequence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, Pair 1
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cohort Studies
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Complement Factor H
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Erythrocytes
General subdivision cytology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gene Conversion
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hemolytic-Uremic Syndrome
General subdivision genetics
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 Models, Genetic
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 Multigene Family
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 Sequence Homology, Nucleic Acid
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sheep
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sanchez-Corral, Pilar
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jackson, Michael S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Strain, Lisa
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Goodship, Judith A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kemp, Elizabeth J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Skerka, Christine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jokiranta, T Sakari
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Meyers, Kevin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wagner, Eric
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Robitaille, Pierre
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Esparza-Gordillo, Jorge
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rodriguez de Cordoba, Santiago
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zipfel, Peter F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Goodship, Timothy H J
773 0# - HOST ITEM ENTRY
Title Human mutation
Related parts vol. 27
-- no. 3
-- p. 292-3
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/humu.9408">https://doi.org/10.1002/humu.9408</a>
Public note Available from publisher's website

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