Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2. (Record no. 26258857)

MARC details
000 -LEADER
fixed length control field 01635 a2200493 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517105719.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201801s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1873-2364
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.nmd.2016.06.457
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 Pedurupillay, Christeen Ramane J
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20180125
245 00 - TITLE STATEMENT
Title Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Neuromuscular disorders : NMD
Date of publication, distribution, etc. 09 2016
300 ## - PHYSICAL DESCRIPTION
Extent 570-5 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 Child
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child, Preschool
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA-Binding Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Fatal Outcome
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 Infant
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
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 Respiratory Insufficiency
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Siblings
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Spinal Muscular Atrophies of Childhood
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Transcription Factors
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Amundsen, Silja S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Barøy, Tuva
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rasmussen, Magnhild
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Blomhoff, Anne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stadheim, Barbro Fossøy
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ørstavik, Kristin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Holmgren, Asbjørn
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Iqbal, Tahir
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Frengen, Eirik
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Misceo, Doriana
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Strømme, Petter
773 0# - HOST ITEM ENTRY
Title Neuromuscular disorders : NMD
Related parts vol. 26
-- no. 9
-- p. 570-5
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.nmd.2016.06.457">https://doi.org/10.1016/j.nmd.2016.06.457</a>
Public note Available from publisher's website

No items available.