The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene. (Record no. 25937483)

MARC details
000 -LEADER
fixed length control field 01441 a2200409 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517092007.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201712s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1873-5150
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.pediatrneurol.2016.02.010
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 Maas, Roderick P P W M
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20171215
245 00 - TITLE STATEMENT
Title The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Pediatric neurology
Date of publication, distribution, etc. 06 2016
300 ## - PHYSICAL DESCRIPTION
Extent 71-75.e1 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Review
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adult
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cerebellar Ataxia
General subdivision genetics
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 Child, Preschool
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Family
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 Foot Deformities, Congenital
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hearing Loss, Sensorineural
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 Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Optic Atrophy
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Point Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Reflex, Abnormal
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sodium-Potassium-Exchanging ATPase
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schieving, Jolanda H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schouten, Meyke
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kamsteeg, Erik-Jan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van de Warrenburg, Bart P C
773 0# - HOST ITEM ENTRY
Title Pediatric neurology
Related parts vol. 59
-- p. 71-75.e1
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.pediatrneurol.2016.02.010">https://doi.org/10.1016/j.pediatrneurol.2016.02.010</a>
Public note Available from publisher's website

No items available.