Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia. (Record no. 24003538)

MARC details
000 -LEADER
fixed length control field 00967 a2200277 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516222942.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field ####s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 2214-4269
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.ymgmr.2014.04.004
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 Murali, Chaya
245 00 - TITLE STATEMENT
Title Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Molecular genetics and metabolism reports
Date of publication, distribution, etc. 2014
300 ## - PHYSICAL DESCRIPTION
Extent 213-219 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lu, James T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jain, Mahim
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Liu, David S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lachman, Ralph
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gibbs, Richard A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lee, Brendan H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cohn, Daniel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Campeau, Philippe M
773 0# - HOST ITEM ENTRY
Title Molecular genetics and metabolism reports
Related parts vol. 1
-- p. 213-219
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ymgmr.2014.04.004">https://doi.org/10.1016/j.ymgmr.2014.04.004</a>
Public note Available from publisher's website

No items available.