Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia. (Record no. 27432718)

MARC details
000 -LEADER
fixed length control field 02310 a2200721 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517165513.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201711s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1523-1747
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.jid.2017.06.028
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 Takeichi, Takuya
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20171102
245 00 - TITLE STATEMENT
Title Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. The Journal of investigative dermatology
Date of publication, distribution, etc. 11 2017
300 ## - PHYSICAL DESCRIPTION
Extent 2344-2353 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 Adolescent
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Alcohol Oxidoreductases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Alleles
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Biopsy, Needle
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Ceramides
General subdivision biosynthesis
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 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 Immunohistochemistry
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element In Vitro Techniques
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Keratoderma, Palmoplantar
General subdivision complications
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 Mutation
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 Prognosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sampling Studies
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Severity of Illness Index
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Thrombocytopenia
General subdivision complications
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Young Adult
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Torrelo, Antonio
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lee, John Y W
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ohno, Yusuke
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lozano, María Luisa
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kihara, Akio
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Liu, Lu
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yasuda, Yuka
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ishikawa, Junko
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Murase, Takatoshi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rodrigo, Ana Belén
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fernández-Crehuet, Pablo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Toi, Yoichiro
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mellerio, Jemima
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rivera, José
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vicente, Vicente
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kelsell, David P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nishimura, Yutaka
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Okuno, Yusuke
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kojima, Daiei
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ogawa, Yasushi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sugiura, Kazumitsu
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Simpson, Michael A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name McLean, W H Irwin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Akiyama, Masashi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name McGrath, John A
773 0# - HOST ITEM ENTRY
Title The Journal of investigative dermatology
Related parts vol. 137
-- no. 11
-- p. 2344-2353
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.jid.2017.06.028">https://doi.org/10.1016/j.jid.2017.06.028</a>
Public note Available from publisher's website

No items available.