Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency. (Record no. 21024351)

MARC details
000 -LEADER
fixed length control field 01405 a2200373 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516045910.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201205s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1365-2516
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1111/j.1365-2516.2011.02621.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 Paraboschi, E M
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20120502
245 00 - TITLE STATEMENT
Title Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Haemophilia : the official journal of the World Federation of Hemophilia
Date of publication, distribution, etc. Mar 2012
300 ## - PHYSICAL DESCRIPTION
Extent 205-10 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 Factor V
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Factor V Deficiency
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Frameshift Mutation
General subdivision genetics
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, Missense
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Analysis, DNA
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kayiran, S M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Özbek, N
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gürakan, B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Peyvandi, F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Guella, I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Duga, S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Asselta, R
773 0# - HOST ITEM ENTRY
Title Haemophilia : the official journal of the World Federation of Hemophilia
Related parts vol. 18
-- no. 2
-- p. 205-10
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1111/j.1365-2516.2011.02621.x">https://doi.org/10.1111/j.1365-2516.2011.02621.x</a>
Public note Available from publisher's website

No items available.