POMT2 mutation in a patient with 'MEB-like' phenotype. (Record no. 16301736)

MARC details
000 -LEADER
fixed length control field 01529 a2200481 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515025344.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200610s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0960-8966
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.nmd.2006.03.016
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 Mercuri, E
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20061010
245 00 - TITLE STATEMENT
Title POMT2 mutation in a patient with 'MEB-like' phenotype.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Neuromuscular disorders : NMD
Date of publication, distribution, etc. Jul 2006
300 ## - PHYSICAL DESCRIPTION
Extent 446-8 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 Amino Acid Sequence
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 Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Heterozygote
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 Hypertrophy
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Intellectual Disability
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Magnetic Resonance Imaging
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mannosyltransferases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Microcephaly
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Molecular Sequence Data
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Muscle, Skeletal
General subdivision pathology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Muscular Dystrophies
General subdivision congenital
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 Point Mutation
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name D'Amico, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tessa, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Berardinelli, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pane, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Messina, S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van Reeuwijk, J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bertini, E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Muntoni, F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Santorelli, F M
773 0# - HOST ITEM ENTRY
Title Neuromuscular disorders : NMD
Related parts vol. 16
-- no. 7
-- p. 446-8
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.nmd.2006.03.016">https://doi.org/10.1016/j.nmd.2006.03.016</a>
Public note Available from publisher's website

No items available.