Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome. (Record no. 24146732)

MARC details
000 -LEADER
fixed length control field 01485 a2200445 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516231807.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201411s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1471-2350
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1186/s12881-014-0095-4
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 Fenwick, Aimee L
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20141104
245 00 - TITLE STATEMENT
Title Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. BMC medical genetics
Date of publication, distribution, etc. Aug 2014
300 ## - PHYSICAL DESCRIPTION
Extent 95 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Amino Acid Substitution
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Craniofacial Dysostosis
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Craniosynostoses
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exons
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 Heterozygote
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 Mutation, Missense
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 RNA Splicing
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptor, Fibroblast Growth Factor, Type 2
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Goos, Jacqueline A C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rankin, Julia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lord, Helen
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lester, Tracy
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hoogeboom, A Jeannette M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van den Ouweland, Ans M W
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wall, Steven A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mathijssen, Irene M J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wilkie, Andrew O M
773 0# - HOST ITEM ENTRY
Title BMC medical genetics
Related parts vol. 15
-- p. 95
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1186/s12881-014-0095-4">https://doi.org/10.1186/s12881-014-0095-4</a>
Public note Available from publisher's website

No items available.