Two novel (R(-11)C; T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds. (Record no. 8823856)

MARC details
000 -LEADER
fixed length control field 01517 a2200481 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250513101329.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 199610s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1059-7794
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/(SICI)1098-1004(1996)7:2<176::AID-HUMU16>3.0.CO;2-#
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 Ireland, H A
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 19961017
245 00 - TITLE STATEMENT
Title Two novel (R(-11)C; T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human mutation
Date of publication, distribution, etc. 1996
300 ## - PHYSICAL DESCRIPTION
Extent 176-9 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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 Exons
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 Heterozygote
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 Middle Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Point Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protein C
General subdivision analysis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protein C Deficiency
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Thrombophlebitis
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Boisclair, M D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Taylor, J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Thompson, E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Thein, S L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Girolami, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name De Caterina, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Scopacasa, F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name De Stefano, V
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Leone, G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Finazzi, G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cohen, H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lane, D A
773 0# - HOST ITEM ENTRY
Title Human mutation
Related parts vol. 7
-- no. 2
-- p. 176-9
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/(SICI)1098-1004(1996)7:2<176::AID-HUMU16>3.0.CO;2-#">https://doi.org/10.1002/(SICI)1098-1004(1996)7:2<176::AID-HUMU16>3.0.CO;2-#</a>
Public note Available from publisher's website

No items available.