Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. (Record no. 12279040)

MARC details
000 -LEADER
fixed length control field 01619 a2200457 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514053158.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200302s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0002-9297
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1086/345489
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 Antonicka, Hana
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20030221
245 00 - TITLE STATEMENT
Title Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of human genetics
Date of publication, distribution, etc. Jan 2003
300 ## - PHYSICAL DESCRIPTION
Extent 101-14 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 Age of Onset
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Amino Acid Sequence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Animals
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Base Sequence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cardiomyopathy, Hypertrophic
General subdivision enzymology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Mutational Analysis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Fibroblasts
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Heme
General subdivision analogs & derivatives
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 Membrane Proteins
General subdivision biosynthesis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mitochondria, Heart
General subdivision enzymology
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 Myocardium
General subdivision enzymology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Saccharomyces cerevisiae Proteins
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mattman, Andre
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Carlson, Christopher G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Glerum, D Moira
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hoffbuhr, Kristen C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Leary, Scot C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kennaway, Nancy G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shoubridge, Eric A
773 0# - HOST ITEM ENTRY
Title American journal of human genetics
Related parts vol. 72
-- no. 1
-- p. 101-14
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1086/345489">https://doi.org/10.1086/345489</a>
Public note Available from publisher's website

No items available.