Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. (Record no. 24433130)

MARC details
000 -LEADER
fixed length control field 02347 a2200781 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517005220.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201502s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1537-6605
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.ajhg.2014.11.004
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 Ehmke, Nadja
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20150227
245 00 - TITLE STATEMENT
Title Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of human genetics
Date of publication, distribution, etc. Dec 2014
300 ## - PHYSICAL DESCRIPTION
Extent 763-70 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 Adolescent
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 Amino Acid Sequence
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 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 Hand Deformities, Congenital
General subdivision enzymology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Haplotypes
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Heterozygote
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 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 Middle Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Models, Molecular
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Molecular Sequence Data
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 Oxidoreductases
General subdivision genetics
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 Pierre Robin Syndrome
General subdivision enzymology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Alignment
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Analysis, DNA
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Young Adult
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Caliebe, Almuth
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Koenig, Rainer
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kant, Sarina G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stark, Zornitza
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cormier-Daire, Valérie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wieczorek, Dagmar
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gillessen-Kaesbach, Gabriele
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hoff, Kirstin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kawalia, Amit
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Thiele, Holger
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Altmüller, Janine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fischer-Zirnsak, Björn
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Knaus, Alexej
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zhu, Na
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Heinrich, Verena
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Huber, Celine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Harabula, Izabela
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Spielmann, Malte
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Horn, Denise
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kornak, Uwe
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hecht, Jochen
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Krawitz, Peter M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nürnberg, Peter
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Siebert, Reiner
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Manzke, Hermann
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mundlos, Stefan
773 0# - HOST ITEM ENTRY
Title American journal of human genetics
Related parts vol. 95
-- no. 6
-- p. 763-70
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ajhg.2014.11.004">https://doi.org/10.1016/j.ajhg.2014.11.004</a>
Public note Available from publisher's website

No items available.