Detection of a R173W mutation in the porphobilinogen deaminase gene in the Nova Scotian "foreign Protestant" population with acute intermittent porphyria: a founder effect. (Record no. 9424707)

MARC details
000 -LEADER
fixed length control field 01570 a2200457 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250513134237.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 199803s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0009-9120
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/s0009-9120(97)00114-8
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 Greene-Davis, S T
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 19980306
245 00 - TITLE STATEMENT
Title Detection of a R173W mutation in the porphobilinogen deaminase gene in the Nova Scotian "foreign Protestant" population with acute intermittent porphyria: a founder effect.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Clinical biochemistry
Date of publication, distribution, etc. Dec 1997
300 ## - PHYSICAL DESCRIPTION
Extent 607-12 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 Christianity
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 Genetics, Population
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 Hydroxymethylbilane Synthase
General subdivision genetics
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 Nova Scotia
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 Polymerase Chain Reaction
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Polymorphism, Single-Stranded Conformational
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Porphyria, Acute Intermittent
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 Neumann, P E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mann, O E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Moss, M A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schreiber, W E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Welch, J P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Langley, G R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sangalang, V E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dempsey, G I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nassar, B A
773 0# - HOST ITEM ENTRY
Title Clinical biochemistry
Related parts vol. 30
-- no. 8
-- p. 607-12
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/s0009-9120(97)00114-8">https://doi.org/10.1016/s0009-9120(97)00114-8</a>
Public note Available from publisher's website

No items available.