Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. (Record no. 9619284)

MARC details
000 -LEADER
fixed length control field 01588 a2200457 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250513145051.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 199808s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0027-8424
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1073/pnas.95.14.8181
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 Fitzky, B U
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 19980806
245 00 - TITLE STATEMENT
Title Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Proceedings of the National Academy of Sciences of the United States of America
Date of publication, distribution, etc. Jul 1998
300 ## - PHYSICAL DESCRIPTION
Extent 8181-6 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 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 Chromosome Mapping
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, Pair 11
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cloning, Molecular
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 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 Mice
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
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 Sequence Alignment
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Smith-Lemli-Opitz Syndrome
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Witsch-Baumgartner, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Erdel, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lee, J N
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Paik, Y K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Glossmann, H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Utermann, G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Moebius, F F
773 0# - HOST ITEM ENTRY
Title Proceedings of the National Academy of Sciences of the United States of America
Related parts vol. 95
-- no. 14
-- p. 8181-6
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1073/pnas.95.14.8181">https://doi.org/10.1073/pnas.95.14.8181</a>
Public note Available from publisher's website

No items available.