Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. (Record no. 19004313)

MARC details
000 -LEADER
fixed length control field 01892 a2200649 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515180314.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200907s 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.2009.06.007
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 Wu, Xiao-Lin
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20090715
245 00 - TITLE STATEMENT
Title Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of human genetics
Date of publication, distribution, etc. Jul 2009
300 ## - PHYSICAL DESCRIPTION
Extent 53-63 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 Aged
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 Animals
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child
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 DNA Mutational Analysis
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 Fibroblast Growth Factor 9
General subdivision chemistry
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 Middle Aged
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, 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 Signal Transduction
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Synostosis
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gu, Ming-Min
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Huang, Lei
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Liu, Xue-Song
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zhang, Hong-Xin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ding, Xiao-Yi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Xu, Jian-Qiang
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cui, Bin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wang, Long
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lu, Shun-Yuan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chen, Xiao-Yi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zhang, Hai-Guo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Huang, Wei
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yuan, Wen-Tao
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yang, Jiang-Ming
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gu, Qun
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fei, Jian
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chen, Zhu
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yuan, Zhi-Min
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wang, Zhu-Gang
773 0# - HOST ITEM ENTRY
Title American journal of human genetics
Related parts vol. 85
-- no. 1
-- p. 53-63
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ajhg.2009.06.007">https://doi.org/10.1016/j.ajhg.2009.06.007</a>
Public note Available from publisher's website

No items available.