A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. (Record no. 26833155)

MARC details
000 -LEADER
fixed length control field 02228 a2200721 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517135117.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201710s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1552-4833
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/ajmg.a.38069
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 Dunn, P
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20171019
245 00 - TITLE STATEMENT
Title A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of medical genetics. Part A
Date of publication, distribution, etc. Mar 2017
300 ## - PHYSICAL DESCRIPTION
Extent 611-617 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 Adolescent
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Agenesis of Corpus Callosum
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Anus, Imperforate
General subdivision diagnosis
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 Constipation
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Facies
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 Gene Expression
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Association Studies
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Guanylate Kinases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element High-Throughput Nucleotide Sequencing
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 In Situ Hybridization, Fluorescence
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 X-Linked Intellectual Disability
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Muscle Hypotonia
General subdivision congenital
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Neuropsychological Tests
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Nystagmus, Congenital
General subdivision diagnosis
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 Polymorphism, Single Nucleotide
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element RNA Splice Sites
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Prigatano, G P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Szelinger, S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Roth, J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Siniard, A L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Claasen, A M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Richholt, R F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name De Both, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Corneveaux, J J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Moskowitz, A M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Balak, C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Piras, I S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Russell, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Courtright, A L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Belnap, N
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rangasamy, S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ramsey, K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Opitz, J M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Craig, D W
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Narayanan, V
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Huentelman, M J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schrauwen, I
773 0# - HOST ITEM ENTRY
Title American journal of medical genetics. Part A
Related parts vol. 173
-- no. 3
-- p. 611-617
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/ajmg.a.38069">https://doi.org/10.1002/ajmg.a.38069</a>
Public note Available from publisher's website

No items available.