Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss. (Record no. 15652927)

MARC details
000 -LEADER
fixed length control field 01551 a2200481 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514232836.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200509s 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.1399-0004.2005.00468.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 Piazza, V
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20050913
245 00 - TITLE STATEMENT
Title Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Clinical genetics
Date of publication, distribution, etc. Aug 2005
300 ## - PHYSICAL DESCRIPTION
Extent 161-6 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 Connexin 26
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Connexins
General subdivision genetics
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 Electrophysiology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genes, Dominant
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element HeLa Cells
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hearing Loss, Sensorineural
General subdivision genetics
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 Keratoderma, Palmoplantar
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 Patch-Clamp Techniques
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 Phenotype
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Beltramello, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Menniti, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Colao, E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Malatesta, P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Argento, R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chiarella, G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gallo, L V
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Catalano, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Perrotti, N
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mammano, F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cassandro, E
773 0# - HOST ITEM ENTRY
Title Clinical genetics
Related parts vol. 68
-- no. 2
-- p. 161-6
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1111/j.1399-0004.2005.00468.x">https://doi.org/10.1111/j.1399-0004.2005.00468.x</a>
Public note Available from publisher's website

No items available.