A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria. (Record no. 11281133)

MARC details
000 -LEADER
fixed length control field 01496 a2200421 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514000445.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200107s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0022-202X
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1046/j.1523-1747.2001.01308.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 Frank, J
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20010705
245 00 - TITLE STATEMENT
Title A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. The Journal of investigative dermatology
Date of publication, distribution, etc. May 2001
300 ## - PHYSICAL DESCRIPTION
Extent 821-3 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Letter; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Base Sequence
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Flavoproteins
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 Mitochondrial Proteins
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Molecular Sequence Data
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Oxidoreductases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Oxidoreductases Acting on CH-CH Group Donors
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 Porphyrias
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protoporphyrinogen Oxidase
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jugert, F K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Merk, H F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kalka, K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Goerz, G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Anderson, K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bickers, D R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Poh-Fitzpatrick, M B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Christiano, A M
773 0# - HOST ITEM ENTRY
Title The Journal of investigative dermatology
Related parts vol. 116
-- no. 5
-- p. 821-3
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1046/j.1523-1747.2001.01308.x">https://doi.org/10.1046/j.1523-1747.2001.01308.x</a>
Public note Available from publisher's website

No items available.