Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. (Record no. 11772902)

MARC details
000 -LEADER
fixed length control field 01493 a2200481 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514024412.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200204s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0028-3878
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1212/wnl.58.4.593
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 Scacheri, P C
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20020415
245 00 - TITLE STATEMENT
Title Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Neurology
Date of publication, distribution, etc. Feb 2002
300 ## - PHYSICAL DESCRIPTION
Extent 593-602 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adolescent
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adult
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Aged
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 Chromosomes, Human, Pair 21
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Collagen Type VI
General subdivision genetics
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 Lod Score
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 Middle Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Muscle, Skeletal
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Muscular Diseases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Muscular Dystrophies
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
General subdivision genetics
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 Phenotype
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gillanders, E M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Subramony, S H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vedanarayanan, V
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Crowe, C A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Thakore, N
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bingler, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hoffman, E P
773 0# - HOST ITEM ENTRY
Title Neurology
Related parts vol. 58
-- no. 4
-- p. 593-602
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1212/wnl.58.4.593">https://doi.org/10.1212/wnl.58.4.593</a>
Public note Available from publisher's website

No items available.