A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis. (Record no. 24692079)

MARC details
000 -LEADER
fixed length control field 01384 a2200397 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517021706.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201606s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1365-2230
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1111/ced.12627
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 Ortega-Recalde, O
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20160623
245 00 - TITLE STATEMENT
Title A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Clinical and experimental dermatology
Date of publication, distribution, etc. Oct 2015
300 ## - PHYSICAL DESCRIPTION
Extent 757-60 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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 Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genes, Recessive
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Predisposition to Disease
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 Ichthyosiform Erythroderma, Congenital
General subdivision genetics
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 RNA Splice Sites
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Transglutaminases
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Moreno, M B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vergara, J I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fonseca, D J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rojas, R F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mosquera, H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Medina, C L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Restrepo, C M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Laissue, P
773 0# - HOST ITEM ENTRY
Title Clinical and experimental dermatology
Related parts vol. 40
-- no. 7
-- p. 757-60
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1111/ced.12627">https://doi.org/10.1111/ced.12627</a>
Public note Available from publisher's website

No items available.