Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome. (Record no. 26420113)

MARC details
000 -LEADER
fixed length control field 01478 a2200517 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517114634.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201706s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1399-0004
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1111/cge.12867
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 Faridi, R
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20170626
245 00 - TITLE STATEMENT
Title Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Clinical genetics
Date of publication, distribution, etc. 02 2017
300 ## - PHYSICAL DESCRIPTION
Extent 328-332 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Animals
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cell Cycle Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Claudins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Consanguinity
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exome
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 Gonadal Dysgenesis, 46,XX
General subdivision genetics
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 Homozygote
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 Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mice
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
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rehman, A U
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Morell, R J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Friedman, P L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Demain, L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zahra, S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Khan, A A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tohlob, D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Assir, M Z
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Beaman, G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Khan, S N
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Newman, W G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Riazuddin, S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Friedman, T B
773 0# - HOST ITEM ENTRY
Title Clinical genetics
Related parts vol. 91
-- no. 2
-- p. 328-332
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1111/cge.12867">https://doi.org/10.1111/cge.12867</a>
Public note Available from publisher's website

No items available.