Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. (Record no. 29298323)

MARC details
000 -LEADER
fixed length control field 01867 a2200541 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518021246.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201905s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 2324-9269
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/mgg3.552
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 Bruels, Christine C
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20190508
245 00 - TITLE STATEMENT
Title Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Molecular genetics & genomic medicine
Date of publication, distribution, etc. 03 2019
300 ## - PHYSICAL DESCRIPTION
Extent e552 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Algorithms
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Animals
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cells, Cultured
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Computational Biology
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Drosophila melanogaster
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Testing
General subdivision methods
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 Muscle, Skeletal
General subdivision metabolism
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 Myotonia Congenita
General subdivision genetics
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 RNA Splice Sites
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sarcoplasmic Reticulum Calcium-Transporting ATPases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exome Sequencing
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Young Adult
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Li, Chengcheng
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mendoza, Tonatiuh
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Khan, Jamillah
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Reddy, Hemakumar M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Estrella, Elicia A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ghosh, Partha S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Darras, Basil T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lidov, Hart G W
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pacak, Christina A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kunkel, Louis M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Modave, François
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Draper, Isabelle
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kang, Peter B
773 0# - HOST ITEM ENTRY
Title Molecular genetics & genomic medicine
Related parts vol. 7
-- no. 3
-- p. e552
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/mgg3.552">https://doi.org/10.1002/mgg3.552</a>
Public note Available from publisher's website

No items available.