Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population. (Record no. 10988499)

MARC details
000 -LEADER
fixed length control field 01520 a2200457 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250513222840.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200010s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1434-5161
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1007/s100380070024
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 Ogawa, A
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20001030
245 00 - TITLE STATEMENT
Title Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of human genetics
Date of publication, distribution, etc. 2000
300 ## - PHYSICAL DESCRIPTION
Extent 315-7 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adenosine Triphosphatases
General subdivision genetics
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 Carrier Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cation Transport Proteins
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Codon, Nonsense
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Copper-Transporting ATPases
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Carrier Screening
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 Japan
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 Menkes Kinky Hair Syndrome
General subdivision ethnology
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 Polymorphism, Genetic
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Recombinant Fusion Proteins
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yamamoto, S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kanazawa, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ogawa, E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Takayanagi, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hasegawa, S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kohno, Y
773 0# - HOST ITEM ENTRY
Title Journal of human genetics
Related parts vol. 45
-- no. 5
-- p. 315-7
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1007/s100380070024">https://doi.org/10.1007/s100380070024</a>
Public note Available from publisher's website

No items available.