[A novel mutation of the LYST gene in a Chinese family with Chediak-Higashi syndrome]. (Record no. 30379842)

MARC details
000 -LEADER
fixed length control field 01193 a2200349 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518072944.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 202002s 0 0 chi d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0578-1310
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.3760/cma.j.issn.0578-1310.2019.12.015
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 Wang, M
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20200220
245 00 - TITLE STATEMENT
Title [A novel mutation of the LYST gene in a Chinese family with Chediak-Higashi syndrome].
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Zhonghua er ke za zhi = Chinese journal of pediatrics
Date of publication, distribution, etc. 12 2019
300 ## - PHYSICAL DESCRIPTION
Extent 963-965 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chediak-Higashi Syndrome
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 Mutation
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 Qu, L J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wang, J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chen, T P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Li, Y
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Xu, Z
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cheng, J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wang, C J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gao, S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lu, Y J
773 0# - HOST ITEM ENTRY
Title Zhonghua er ke za zhi = Chinese journal of pediatrics
Related parts vol. 57
-- no. 12
-- p. 963-965
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.3760/cma.j.issn.0578-1310.2019.12.015">https://doi.org/10.3760/cma.j.issn.0578-1310.2019.12.015</a>
Public note Available from publisher's website

No items available.