Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization. (Record no. 23821238)

MARC details
000 -LEADER
fixed length control field 01723 a2200505 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516212739.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201501s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1945-7197
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1210/jc.2014-1029
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 Li, Dong
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20150112
245 00 - TITLE STATEMENT
Title Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. The Journal of clinical endocrinology and metabolism
Date of publication, distribution, etc. Sep 2014
300 ## - PHYSICAL DESCRIPTION
Extent E1774-83 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: 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 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 Bone Development
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 Family Health
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 GTP-Binding Protein alpha Subunits
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genome-Wide Association Study
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Germ-Line Mutation
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Heterozygote
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 Hypercalciuria
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hypocalcemia
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hypoparathyroidism
General subdivision congenital
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 Middle Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
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 Young Adult
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Opas, Evan E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tuluc, Florin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Metzger, Daniel L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hou, Cuiping
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hakonarson, Hakon
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Levine, Michael A
773 0# - HOST ITEM ENTRY
Title The Journal of clinical endocrinology and metabolism
Related parts vol. 99
-- no. 9
-- p. E1774-83
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1210/jc.2014-1029">https://doi.org/10.1210/jc.2014-1029</a>
Public note Available from publisher's website

No items available.