Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities. (Record no. 18254955)

MARC details
000 -LEADER
fixed length control field 01533 a2200493 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515135004.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200902s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1399-0004
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1111/j.1399-0004.2008.01069.x
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 Silvain, M
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20090204
245 00 - TITLE STATEMENT
Title Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Clinical genetics
Date of publication, distribution, etc. Dec 2008
300 ## - PHYSICAL DESCRIPTION
Extent 546-52 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article
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 Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Heart Defects, Congenital
General subdivision etiology
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 Malabsorption Syndromes
General subdivision complications
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 Monomeric GTP-Binding Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Muscles
General subdivision abnormalities
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Young Adult
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bligny, D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Aparicio, T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Laforêt, P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Grodet, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Peretti, N
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ménard, D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Djouadi, F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jardel, C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bégué, J M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Walker, F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schmitz, J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lachaux, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Aggerbeck, L P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Samson-Bouma, M E
773 0# - HOST ITEM ENTRY
Title Clinical genetics
Related parts vol. 74
-- no. 6
-- p. 546-52
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1111/j.1399-0004.2008.01069.x">https://doi.org/10.1111/j.1399-0004.2008.01069.x</a>
Public note Available from publisher's website

No items available.