Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism associated with mutations in the human Ca2+-sensing receptor gene in three Danish families. (Record no. 10836006)

MARC details
000 -LEADER
fixed length control field 01580 a2200421 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250513213736.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200010s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0036-5513
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1080/003655100750044875
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 Schwarz, P
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20001013
245 00 - TITLE STATEMENT
Title Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism associated with mutations in the human Ca2+-sensing receptor gene in three Danish families.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Scandinavian journal of clinical and laboratory investigation
Date of publication, distribution, etc. May 2000
300 ## - PHYSICAL DESCRIPTION
Extent 221-7 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Calcium
General subdivision urine
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Mutational Analysis
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 genetics
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, Newborn
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 Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Polymerase Chain Reaction
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptors, Calcium-Sensing
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptors, Cell Surface
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Analysis, DNA
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Larsen, N E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lønborg Friis, I M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lillquist, K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brown, E M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gammeltoft, S
773 0# - HOST ITEM ENTRY
Title Scandinavian journal of clinical and laboratory investigation
Related parts vol. 60
-- no. 3
-- p. 221-7
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1080/003655100750044875">https://doi.org/10.1080/003655100750044875</a>
Public note Available from publisher's website

No items available.