A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. (Record no. 16362550)

MARC details
000 -LEADER
fixed length control field 02058 a2200625 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515031248.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200609s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1061-4036
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1038/ng1809
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 Horvath, Anelia
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20060911
245 00 - TITLE STATEMENT
Title A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Nature genetics
Date of publication, distribution, etc. Jul 2006
300 ## - PHYSICAL DESCRIPTION
Extent 794-800 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element 3',5'-Cyclic-GMP Phosphodiesterases
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adrenal Glands
General subdivision enzymology
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 Child
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, Pair 2
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cushing Syndrome
General subdivision enzymology
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 Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hyperplasia
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Loss of Heterozygosity
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 Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Phosphoric Diester Hydrolases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Polymorphism, Single Nucleotide
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Boikos, Sosipatros
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Giatzakis, Christoforos
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Robinson-White, Audrey
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Groussin, Lionel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Griffin, Kurt J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stein, Erica
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Levine, Elizabeth
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Delimpasi, Georgia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hsiao, Hui Pin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Keil, Meg
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Heyerdahl, Sarah
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Matyakhina, Ludmila
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Libè, Rossella
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fratticci, Amato
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kirschner, Lawrence S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cramer, Kevin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gaillard, Rolf C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bertagna, Xavier
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Carney, J Aidan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bertherat, Jérôme
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bossis, Ioannis
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stratakis, Constantine A
773 0# - HOST ITEM ENTRY
Title Nature genetics
Related parts vol. 38
-- no. 7
-- p. 794-800
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1038/ng1809">https://doi.org/10.1038/ng1809</a>
Public note Available from publisher's website

No items available.