Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. (Record no. 20892477)

MARC details
000 -LEADER
fixed length control field 02201 a2200661 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516041432.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201110s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1558-8238
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1172/JCI43639
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 Dafinger, Claudia
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20111013
245 00 - TITLE STATEMENT
Title Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. The Journal of clinical investigation
Date of publication, distribution, etc. Jul 2011
300 ## - PHYSICAL DESCRIPTION
Extent 2662-7 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
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 Cerebellar Diseases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cerebellum
General subdivision abnormalities
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, Pair 15
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Consanguinity
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 Drosophila
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Eye Abnormalities
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Golgi Apparatus
General subdivision pathology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hedgehog Proteins
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 Kidney Diseases, Cystic
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Kinesins
General subdivision genetics
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 Microtubules
General subdivision metabolism
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 RNA, Small Interfering
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Retina
General subdivision abnormalities
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Signal Transduction
General subdivision physiology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Tissue Distribution
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Liebau, Max Christoph
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Elsayed, Solaf Mohamed
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hellenbroich, Yorck
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Boltshauser, Eugen
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Korenke, Georg Christoph
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fabretti, Francesca
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Janecke, Andreas Robert
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ebermann, Inga
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nürnberg, Gudrun
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nürnberg, Peter
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zentgraf, Hanswalter
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Koerber, Friederike
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Addicks, Klaus
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Elsobky, Ezzat
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Benzing, Thomas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schermer, Bernhard
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bolz, Hanno Jörn
773 0# - HOST ITEM ENTRY
Title The Journal of clinical investigation
Related parts vol. 121
-- no. 7
-- p. 2662-7
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1172/JCI43639">https://doi.org/10.1172/JCI43639</a>
Public note Available from publisher's website

No items available.