Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. (Record no. 18463874)

MARC details
000 -LEADER
fixed length control field 02141 a2200709 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515145750.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200904s 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.20886
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 Seifert, Wenke
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20090410
245 00 - TITLE STATEMENT
Title Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human mutation
Date of publication, distribution, etc. Feb 2009
300 ## - PHYSICAL DESCRIPTION
Extent E404-20 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 Abnormalities, Multiple
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adolescent
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 Alternative Splicing
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 Child
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child, Preschool
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 Exons
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 Expression Profiling
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gene Expression Regulation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Haplotypes
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 Infant
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 Middle Aged
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 Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Polymorphism, Genetic
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element RNA Splice Sites
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element RNA, Messenger
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Syndrome
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Vesicular Transport Proteins
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Holder-Espinasse, Muriel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kühnisch, Jirko
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kahrizi, Kimia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tzschach, Andreas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Garshasbi, Masoud
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Najmabadi, Hossein
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Walter Kuss, Andreas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kress, Wolfram
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Laureys, Geneviève
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Loeys, Bart
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brilstra, Eva
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mancini, Grazia M S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dollfus, Hélène
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dahan, Karin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Apse, Kira
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hennies, Hans Christian
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Horn, Denise
773 0# - HOST ITEM ENTRY
Title Human mutation
Related parts vol. 30
-- no. 2
-- p. E404-20
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/humu.20886">https://doi.org/10.1002/humu.20886</a>
Public note Available from publisher's website

No items available.