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