Identification of five novel BOR mutations in human EYA1 gene associated with branchio-oto-renal syndrome by a DHPLC-based assay. (Record no. 15170202)

MARC details
000 -LEADER
fixed length control field 01432 a2200421 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514204804.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200503s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0009-9163
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1111/j.1399-0004.2004.00318.x
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 Migliosi, V
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20050304
245 00 - TITLE STATEMENT
Title Identification of five novel BOR mutations in human EYA1 gene associated with branchio-oto-renal syndrome by a DHPLC-based assay.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Clinical genetics
Date of publication, distribution, etc. Nov 2004
300 ## - PHYSICAL DESCRIPTION
Extent 478-80 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Letter
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Branchio-Oto-Renal Syndrome
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromatography, High Pressure Liquid
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Mutational Analysis
General subdivision methods
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 Intracellular Signaling Peptides and Proteins
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
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Nuclear Proteins
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Nucleic Acid Denaturation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protein Tyrosine Phosphatases
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Trans-Activators
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Flex, E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Guida, V
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Martini, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Giarbini, N
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Markova, T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Torrente, I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dallapiccola, B
773 0# - HOST ITEM ENTRY
Title Clinical genetics
Related parts vol. 66
-- no. 5
-- p. 478-80
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1111/j.1399-0004.2004.00318.x">https://doi.org/10.1111/j.1399-0004.2004.00318.x</a>
Public note Available from publisher's website

No items available.