A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2). (Record no. 25597972)

MARC details
000 -LEADER
fixed length control field 01576 a2200409 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517072430.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201712s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1523-4681
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/jbmr.2778
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 Gorvin, Caroline M
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20171221
245 00 - TITLE STATEMENT
Title A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2).
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Date of publication, distribution, etc. 06 2016
300 ## - PHYSICAL DESCRIPTION
Extent 1200-6 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 Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Amino Acid Substitution
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Calcium Signaling
General subdivision genetics
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 Fibroblast Growth Factor-23
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element GTP-Binding Protein alpha Subunits
General subdivision chemistry
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element HEK293 Cells
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 genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation, Missense
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protein Domains
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptors, Calcium-Sensing
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cranston, Treena
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hannan, Fadil M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rust, Nigel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Qureshi, Asjid
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nesbit, M Andrew
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Thakker, Rajesh V
773 0# - HOST ITEM ENTRY
Title Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Related parts vol. 31
-- no. 6
-- p. 1200-6
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/jbmr.2778">https://doi.org/10.1002/jbmr.2778</a>
Public note Available from publisher's website

No items available.