Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets. (Record no. 16240026)

MARC details
000 -LEADER
fixed length control field 01408 a2200445 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515023523.0
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 1660-2137
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1159/000092916
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 Lo, Fu-Sung
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20060907
245 00 - TITLE STATEMENT
Title Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Nephron. Physiology
Date of publication, distribution, etc. 2006
300 ## - PHYSICAL DESCRIPTION
Extent p157-63 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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 Child, Preschool
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 Hypophosphatemia, Familial
General subdivision diagnosis
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 Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Membrane Glycoproteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Metalloendopeptidases
General subdivision genetics
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 PHEX Phosphate Regulating Neutral Endopeptidase
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 Radiography
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Taiwan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kuo, Min-Tzu
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wang, Chao-Jan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chang, Chia-Hsieh
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lee, Zhon-Liau
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Van, Yang-Hau
773 0# - HOST ITEM ENTRY
Title Nephron. Physiology
Related parts vol. 103
-- no. 4
-- p. p157-63
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1159/000092916">https://doi.org/10.1159/000092916</a>
Public note Available from publisher's website

No items available.