A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome. (Record no. 19384626)

MARC details
000 -LEADER
fixed length control field 01195 a2200349 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515201007.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201004s 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.1399-0004.2009.01331.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 Badura-Stronka, M
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20100416
245 00 - TITLE STATEMENT
Title A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Clinical genetics
Date of publication, distribution, etc. Feb 2010
300 ## - PHYSICAL DESCRIPTION
Extent 141-4 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 Codon, Nonsense
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cullin Proteins
General subdivision chemistry
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 Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element X-Linked Intellectual Disability
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jamsheer, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Materna-Kiryluk, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sowińska, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kiryluk, K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Budny, B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Latos-Bieleńska, A
773 0# - HOST ITEM ENTRY
Title Clinical genetics
Related parts vol. 77
-- no. 2
-- p. 141-4
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1111/j.1399-0004.2009.01331.x">https://doi.org/10.1111/j.1399-0004.2009.01331.x</a>
Public note Available from publisher's website

No items available.