Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. (Record no. 20547608)

MARC details
000 -LEADER
fixed length control field 02181 a2200637 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516022149.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201109s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1476-5438
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1038/ejhg.2010.256
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 Ben Yaou, Rabah
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20110913
245 00 - TITLE STATEMENT
Title Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. European journal of human genetics : EJHG
Date of publication, distribution, etc. Jun 2011
300 ## - PHYSICAL DESCRIPTION
Extent 647-54 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 Abnormalities, Multiple
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Acro-Osteolysis
General subdivision complications
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 Amino Acid Sequence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cell Culture Techniques
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 Fibroblasts
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 Homozygote
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 Lamin Type A
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Lipodystrophy
General subdivision complications
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mandible
General subdivision abnormalities
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Membrane Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Metalloendopeptidases
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 Muscular Dystrophies
General subdivision complications
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 Mutation, Missense
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Myopathies, Structural, Congenital
General subdivision complications
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Nuclear Proteins
General subdivision genetics
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 Progeria
General subdivision complications
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protein Precursors
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Navarro, Claire
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Quijano-Roy, Susana
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bertrand, Anne T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Massart, Catherine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name De Sandre-Giovannoli, Annachiara
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cadiñanos, Juan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mamchaoui, Kamel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Butler-Browne, Gillian
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Estournet, Brigitte
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Richard, Pascale
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Barois, Annie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lévy, Nicolas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bonne, Gisèle
773 0# - HOST ITEM ENTRY
Title European journal of human genetics : EJHG
Related parts vol. 19
-- no. 6
-- p. 647-54
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1038/ejhg.2010.256">https://doi.org/10.1038/ejhg.2010.256</a>
Public note Available from publisher's website

No items available.