Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy. (Record no. 9793397)

MARC details
000 -LEADER
fixed length control field 01510 a2200469 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250513155129.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 199902s 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/s0960-8966(98)00065-0
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 Naom, I
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 19990204
245 00 - TITLE STATEMENT
Title Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Neuromuscular disorders : NMD
Date of publication, distribution, etc. Oct 1998
300 ## - PHYSICAL DESCRIPTION
Extent 495-501 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 Base Sequence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Biopsy
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Brain
General subdivision diagnostic imaging
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 DNA Mutational Analysis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Electrophysiology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Family Health
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 Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Laminin
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 Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Muscles
General subdivision innervation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Muscular Dystrophies
General subdivision diagnosis
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 Point Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Radionuclide Imaging
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name D'Alessandro, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sewry, C A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Philpot, J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Manzur, A Y
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dubowitz, V
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Muntoni, F
773 0# - HOST ITEM ENTRY
Title Neuromuscular disorders : NMD
Related parts vol. 8
-- no. 7
-- p. 495-501
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/s0960-8966(98)00065-0">https://doi.org/10.1016/s0960-8966(98)00065-0</a>
Public note Available from publisher's website

No items available.