The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement. (Record no. 22016046)

MARC details
000 -LEADER
fixed length control field 02419 a2200745 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516104843.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201210s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1537-6605
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.ajhg.2012.07.014
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 Ishiura, Hiroyuki
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20121022
245 00 - TITLE STATEMENT
Title The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of human genetics
Date of publication, distribution, etc. Aug 2012
300 ## - PHYSICAL DESCRIPTION
Extent 320-9 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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 Chromosomes, Human, Pair 3
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA-Binding Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exome
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Linkage
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Predisposition to Disease
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Golgi Apparatus
General subdivision pathology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Haplotypes
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hereditary Sensory and Motor Neuropathy
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 Inclusion Bodies
General subdivision pathology
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 Molecular Sequence Data
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Motor Neurons
General subdivision pathology
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 Point Mutation
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Polymorphism, Single Nucleotide
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Analysis, DNA
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sako, Wataru
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yoshida, Mari
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kawarai, Toshitaka
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tanabe, Osamu
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Goto, Jun
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Takahashi, Yuji
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Date, Hidetoshi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mitsui, Jun
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ahsan, Budrul
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ichikawa, Yaeko
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Iwata, Atsushi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yoshino, Hiide
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Izumi, Yuishin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fujita, Koji
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Maeda, Kouji
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Goto, Satoshi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Koizumi, Hidetaka
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Morigaki, Ryoma
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ikemura, Masako
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yamauchi, Naoko
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Murayama, Shigeo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nicholson, Garth A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ito, Hidefumi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sobue, Gen
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nakagawa, Masanori
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kaji, Ryuji
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tsuji, Shoji
773 0# - HOST ITEM ENTRY
Title American journal of human genetics
Related parts vol. 91
-- no. 2
-- p. 320-9
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ajhg.2012.07.014">https://doi.org/10.1016/j.ajhg.2012.07.014</a>
Public note Available from publisher's website

No items available.