Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency. (Record no. 21151099)

MARC details
000 -LEADER
fixed length control field 01655 a2200505 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516054336.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201203s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1096-7206
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.ymgme.2011.08.021
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 Achouitar, Samira
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20120315
245 00 - TITLE STATEMENT
Title Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Molecular genetics and metabolism
Date of publication, distribution, etc. Dec 2011
300 ## - PHYSICAL DESCRIPTION
Extent 691-4 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 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 Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Founder Effect
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Association Studies
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hepatomegaly
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 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 Mutation, Missense
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Phenotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Phosphorylase Kinase
General subdivision deficiency
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Goldstein, Jennifer L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mohamed, Miski
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Austin, Stephanie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Boyette, Keri
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Blanpain, Francoise M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rehder, Catherine W
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kishnani, Priya S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wortmann, Saskia B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name den Heijer, Martin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lefeber, Dirk J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wevers, Ron A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bali, Deeksha S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Morava, Eva
773 0# - HOST ITEM ENTRY
Title Molecular genetics and metabolism
Related parts vol. 104
-- no. 4
-- p. 691-4
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ymgme.2011.08.021">https://doi.org/10.1016/j.ymgme.2011.08.021</a>
Public note Available from publisher's website

No items available.