LRIG2 mutations cause urofacial syndrome. (Record no. 22413644)

MARC details
000 -LEADER
fixed length control field 02267 a2200757 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516131135.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201304s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1537-6605
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.ajhg.2012.12.002
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 Stuart, Helen M
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20130404
245 00 - TITLE STATEMENT
Title LRIG2 mutations cause urofacial syndrome.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of human genetics
Date of publication, distribution, etc. Feb 2013
300 ## - PHYSICAL DESCRIPTION
Extent 259-64 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 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 Facies
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Family
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 Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Immunohistochemistry
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 Membrane Glycoproteins
General subdivision genetics
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 Mutation
General subdivision genetics
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 Urinary Bladder
General subdivision pathology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Urinary Bladder, Neurogenic
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Urologic Diseases
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Roberts, Neil A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Burgu, Berk
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Daly, Sarah B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Urquhart, Jill E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bhaskar, Sanjeev
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dickerson, Jonathan E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mermerkaya, Murat
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Silay, Mesrur Selcuk
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lewis, Malcolm A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Olondriz, M Beatriz Orive
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gener, Blanca
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Beetz, Christian
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Varga, Rita E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gülpınar, Omer
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Süer, Evren
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Soygür, Tarkan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ozçakar, Zeynep B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yalçınkaya, Fatoş
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kavaz, Aslı
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bulum, Burcu
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gücük, Adnan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yue, Wyatt W
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Erdogan, Firat
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Berry, Andrew
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hanley, Neil A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name McKenzie, Edward A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hilton, Emma N
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Woolf, Adrian S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Newman, William G
773 0# - HOST ITEM ENTRY
Title American journal of human genetics
Related parts vol. 92
-- no. 2
-- p. 259-64
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ajhg.2012.12.002">https://doi.org/10.1016/j.ajhg.2012.12.002</a>
Public note Available from publisher's website

No items available.