The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1. (Record no. 9600845)

MARC details
000 -LEADER
fixed length control field 01562 a2200457 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250513144445.0
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 0002-9297
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1086/301931
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 Greer, W L
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 19980813
245 00 - TITLE STATEMENT
Title The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097-->T transversion in NPC1.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of human genetics
Date of publication, distribution, etc. Jul 1998
300 ## - PHYSICAL DESCRIPTION
Extent 52-4 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 Alleles
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Carrier Proteins
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, Pair 13
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 Genetic Linkage
General subdivision genetics
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 Intracellular Signaling Peptides and Proteins
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Lysosomal Storage Diseases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Membrane Glycoproteins
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Niemann-Pick C1 Protein
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Niemann-Pick Diseases
General subdivision classification
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 Point Mutation
General subdivision genetics
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 Proteins
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Riddell, D C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gillan, T L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Girouard, G S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sparrow, S M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Byers, D M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dobson, M J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Neumann, P E
773 0# - HOST ITEM ENTRY
Title American journal of human genetics
Related parts vol. 63
-- no. 1
-- p. 52-4
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1086/301931">https://doi.org/10.1086/301931</a>
Public note Available from publisher's website

No items available.