Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease. (Record no. 11091216)

MARC details
000 -LEADER
fixed length control field 01510 a2200481 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250513230201.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200104s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0340-5354
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1007/s004150070076
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 Selleri, S
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20010405
245 00 - TITLE STATEMENT
Title Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of neurology
Date of publication, distribution, etc. Nov 2000
300 ## - PHYSICAL DESCRIPTION
Extent 875-7 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
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 Brain
General subdivision pathology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exons
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 Galactosylceramidase
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gene Deletion
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 Leukodystrophy, Globoid Cell
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 Mutation
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Time Factors
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Torchiana, E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pareyson, D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lulli, L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bertagnolio, B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Savoiardo, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Farina, L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Carrara, F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Filocamo, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gatti, R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sghirlanzoni, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Uziel, G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Finocchiaro, G
773 0# - HOST ITEM ENTRY
Title Journal of neurology
Related parts vol. 247
-- no. 11
-- p. 875-7
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1007/s004150070076">https://doi.org/10.1007/s004150070076</a>
Public note Available from publisher's website

No items available.