Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency. (Record no. 25028879)

MARC details
000 -LEADER
fixed length control field 02451 a2200805 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517040855.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201605s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1460-2083
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1093/hmg/ddv245
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 Tan, Chuan
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20160531
245 00 - TITLE STATEMENT
Title Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human molecular genetics
Date of publication, distribution, etc. Sep 2015
300 ## - PHYSICAL DESCRIPTION
Extent 5250-9 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element 3-Hydroxysteroid Dehydrogenases
General subdivision genetics
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 Adult
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Age of Onset
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Aldo-Keto Reductase Family 1 Member C3
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cadherins
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 Cluster Analysis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Epilepsy
General subdivision blood
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 Fibroblasts
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gene Expression Profiling
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gene Expression Regulation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Gene Regulatory Networks
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 Hydroxyprostaglandin Dehydrogenases
General subdivision genetics
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 Infant, Newborn
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Intellectual Disability
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Middle Aged
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 Phenotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pregnanolone
General subdivision blood
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protocadherins
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Reproducibility of Results
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Signal Transduction
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Young Adult
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shard, Chloe
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ranieri, Enzo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hynes, Kim
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pham, Duyen H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Leach, Damian
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Buchanan, Grant
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Corbett, Mark
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shoubridge, Cheryl
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kumar, Raman
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Douglas, Evelyn
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nguyen, Lam S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mcmahon, Jacinta
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sadleir, Lynette
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Specchio, Nicola
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Marini, Carla
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Guerrini, Renzo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Moller, Rikke S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Depienne, Christel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Haan, Eric
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Thomas, Paul Q
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Berkovic, Samuel F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Scheffer, Ingrid E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gecz, Jozef
773 0# - HOST ITEM ENTRY
Title Human molecular genetics
Related parts vol. 24
-- no. 18
-- p. 5250-9
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1093/hmg/ddv245">https://doi.org/10.1093/hmg/ddv245</a>
Public note Available from publisher's website

No items available.