New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). (Record no. 20736042)

MARC details
000 -LEADER
fixed length control field 01429 a2200385 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516032319.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201110s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1677-9487
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1590/s0004-27302011000100009
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 Rodrigues, Luiza Souza
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20111024
245 00 - TITLE STATEMENT
Title New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT).
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Arquivos brasileiros de endocrinologia e metabologia
Date of publication, distribution, etc. Feb 2011
300 ## - PHYSICAL DESCRIPTION
Extent 67-71 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article
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 Hypercalcemia
General subdivision blood
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hyperparathyroidism
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 Mutation
General subdivision genetics
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 Receptors, Calcium-Sensing
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Recurrence
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cáu, Ana Carolina Arias
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bussmann, Luciane Zgoda
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bastida, Gabriela
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brunetto, Oscar H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Corrêa, Pedro Henrique Silveira
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Martin, Regina Matsunaga
773 0# - HOST ITEM ENTRY
Title Arquivos brasileiros de endocrinologia e metabologia
Related parts vol. 55
-- no. 1
-- p. 67-71
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1590/s0004-27302011000100009">https://doi.org/10.1590/s0004-27302011000100009</a>
Public note Available from publisher's website

No items available.