A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis. (Record no. 20961599)

MARC details
000 -LEADER
fixed length control field 01476 a2200409 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516043734.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201109s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1471-2350
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1186/1471-2350-12-86
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 Sarasola, Esther
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20110915
245 00 - TITLE STATEMENT
Title A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. BMC medical genetics
Date of publication, distribution, etc. Jun 2011
300 ## - PHYSICAL DESCRIPTION
Extent 86 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 Child
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 Hereditary Sensory and Autonomic Neuropathies
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 Infant
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Introns
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pain Perception
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Phenotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protein Structure, Tertiary
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element RNA Splice Sites
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element RNA Splicing
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptor, trkA
General subdivision chemistry
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Deletion
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rodríguez, Jose A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Garrote, Elisa
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Arístegui, Javier
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name García-Barcina, Maria J
773 0# - HOST ITEM ENTRY
Title BMC medical genetics
Related parts vol. 12
-- p. 86
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1186/1471-2350-12-86">https://doi.org/10.1186/1471-2350-12-86</a>
Public note Available from publisher's website

No items available.